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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE,NOIMAGEINDEX" /><meta name="author" content="Atul Mehta, Michael Beck, Gere Sunder-Plassmann" /><meta name="citation_title" content="Fabry Disease" /><meta name="citation_publisher" content="Oxford PharmaGenesis" /><meta name="citation_date" content="2006" /><meta name="citation_author" content="Atul Mehta" /><meta name="citation_author" content="Michael Beck" /><meta name="citation_author" content="Gere Sunder-Plassmann" /><meta name="citation_pmid" content="21290683" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK11586/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Fabry Disease" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="Oxford PharmaGenesis" /><meta name="DC.Contributor" content="Atul Mehta" /><meta name="DC.Contributor" content="Michael Beck" /><meta name="DC.Contributor" content="Gere Sunder-Plassmann" /><meta name="DC.Date" content="2006" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK11586/" /><meta name="DC.Language" content="en" /><meta name="description" content="Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life." /><meta name="og:title" content="Fabry Disease" /><meta name="og:type" content="book" /><meta name="og:description" content="Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK11586/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-fabry-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/fabry/toc/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK11586/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p></div><div class="pagination bk_noprnt"><span class="inactive page_link prev">< Prev</span><a class="active page_link next" href="/books/n/fabry/A2492/" title="Next page in this title">Next ></a></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/Book"><div class="meta-content fm-sec"><div class="iconblock whole_rhythm clearfix no_top_margin"><a href="http://www.pharmagenesis.com/" title="Oxford PharmaGenesis" class="img_link icnblk_img" ref="pagearea=logo&targetsite=external&targetcat=link&targettype=publisher"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-fabry-lrg.png" alt="Cover of Fabry Disease" /></a><div class="icnblk_cntnt"><h1 id="_NBK11586_"><span itemprop="name">Fabry Disease</span></h1><div class="subtitle">Perspectives from 5 Years of FOS</div><p class="contrib-group">Editors: <span itemprop="editor">Atul Mehta</span>, <span itemprop="editor">Michael Beck</span>, and <span itemprop="editor">Gere Sunder-Plassmann</span>.</p><a data-jig="ncbitoggler" href="#__NBK11586_ai__" style="border:0;text-decoration:none">Editor Information</a><div style="display:none" class="ui-widget" id="__NBK11586_ai__"><p class="contrib-group"><h4>Editors</h4>Editors: <span itemprop="editor">Atul Mehta</span>,<sup>1</sup> <span itemprop="editor">Michael Beck</span>,<sup>2</sup> and <span itemprop="editor">Gere Sunder-Plassmann</span><sup>3</sup>.</p><h4>Affiliations</h4><div class="affiliation"><sup>1</sup> Department of Academic Haematology, Royal Free and University College
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Medical School, London, UK</div><div class="affiliation"><sup>2</sup> Universitäts-Kinderklinik, Mainz, Germany</div><div class="affiliation"><sup>3</sup> Division of Nephrology and Dialysis, Department of Medicine III,
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Medical University Vienna, Vienna, Austria</div></div><div class="half_rhythm">Oxford: <a href="http://www.pharmagenesis.com/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=publisher"><span itemprop="publisher">Oxford PharmaGenesis</span></a>; <span itemprop="datePublished">2006</span>.<div class="small">ISBN-10: <span itemprop="isbn">1-903539-03-X</span></div></div><div class="half_rhythm"><ul class="inline_list"><li><span class="label"><a data-jig="ncbidialog" href="#_ncbi_dlg_cpyrght_NBK11586" data-jigconfig="modal:true">Copyright and
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Permissions</a></span></li></ul></div><div id="_ncbi_dlg_cpyrght_NBK11586" style="display:none" title="Copyright and Permissions"><div><div>Copyright © 2006, Oxford PharmaGenesis™.</div><div>For more information, see the <a href="/books/about/copyright/">Bookshelf Copyright Notice</a>.</div></div></div><div class="bk_noprnt"><form method="get" action="/books/n/fabry/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div></div></div><div class="body-content whole_rhythm" itemprop="text"><div itemprop="description"><p>Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life.</p><p>By the end of 2005, FOS contained comprehensive information on over 750 patients from 13 countries. This outcome survey has therefore been able to greatly extend the information previously available from limited small-scale clinical trials, and reflects the clinical picture of Fabry disease and its response to ERT with agalsidase alfa within the context of normal clinical practice.</p></div><div><h2>Contents</h2><div class="bktoc_all_cntnr top align_right" style="display:none"><ul class="inline_list_right"><li><a class="bktoc_all_exp" href="#">Expand All</a></li><li style="margin-left:.8em"><a class="bktoc_all_clps" href="#">Collapse All</a></li></ul></div><ul id="toc_tllNBK11586_A2492" class="simple-list toc toc-toggle"><li class="half_rhythm" id="toc_itm_NBK11586_A2492"><a href="/books/n/fabry/A2492/" class="toc-item">Foreword</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2493"><a href="/books/n/fabry/A2493/" class="toc-item">Contributors</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A67"><a href="/books/n/fabry/A67/" class="toc-item">Preface</a></li><li class="half_rhythm" id="toc_itm_NBK11586_part1_bxml"><a href="/books/n/fabry/part1.bxml/" class="toc-item">List of abbreviations</a></li><li class="half_rhythm" id="toc_itm_NBK11586_Section1_bxml"><a href="/books/n/fabry/Section1.bxml/" class="toc-item">Section 1. General aspects of lysosomal storage diseases</a><ul id="toc_lst_NBK11586_A74" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A74"><a href="/books/n/fabry/A74/" class="toc-item">1. History of lysosomal storage diseases: an overview</a><div>Atul Mehta, Michael Beck, Aleš Linhart, Gere Sunder-Plassmann, and Urs Widmer.</div><ul id="toc_lst_NBK11586_A80" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A80"><a href="/books/n/fabry/A74/#A80" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A82"><a href="/books/n/fabry/A74/#A82" class="toc-item">Recognition of the lysosome as central to storage diseases</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A84"><a href="/books/n/fabry/A74/#A84" class="toc-item">Treatment of LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A85"><a href="/books/n/fabry/A74/#A85" class="toc-item">First description of Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A88"><a href="/books/n/fabry/A74/#A88" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x36ed040"><a href="/books/n/fabry/A74/#N0x1d80330N0x36ed040" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A142"><a href="/books/n/fabry/A142/" class="toc-item">2. Epidemiology of lysosomal storage diseases: an overview</a><div>Maria Fuller, Peter J Meikle, and John J Hopwood.</div><ul id="toc_lst_NBK11586_A144" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A144"><a href="/books/n/fabry/A142/#A144" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A145"><a href="/books/n/fabry/A142/#A145" class="toc-item">Genes and proteins</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A146"><a href="/books/n/fabry/A142/#A146" class="toc-item">Incidence and prevalence</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A150"><a href="/books/n/fabry/A142/#A150" class="toc-item">Burden of illness</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A151"><a href="/books/n/fabry/A142/#A151" class="toc-item">Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A152"><a href="/books/n/fabry/A142/#A152" class="toc-item">Newborn screening for Fabry disease and other LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A156"><a href="/books/n/fabry/A142/#A156" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3758450"><a href="/books/n/fabry/A142/#N0x1d80330N0x3758450" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A201"><a href="/books/n/fabry/A201/" class="toc-item">3. Physiology of the lysosome</a><div>Paul Saftig.</div><ul id="toc_lst_NBK11586_A203" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A203"><a href="/books/n/fabry/A201/#A203" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A204"><a href="/books/n/fabry/A201/#A204" class="toc-item">Role of the lysosome in cell physiology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A205"><a href="/books/n/fabry/A201/#A205" class="toc-item">Role of lysosomal enzymes and membrane proteins</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A210"><a href="/books/n/fabry/A201/#A210" class="toc-item">Trafficking of lysosomal enzymes</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A216"><a href="/books/n/fabry/A201/#A216" class="toc-item">Enzyme replacement and chaperone therapies</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A219"><a href="/books/n/fabry/A201/#A219" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A220"><a href="/books/n/fabry/A201/#A220" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x37e7668"><a href="/books/n/fabry/A201/#N0x1d80330N0x37e7668" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A276"><a href="/books/n/fabry/A276/" class="toc-item">4. Cellular pathophysiology of lysosomal storage diseases</a><div>Volkmar Gieselmann.</div><ul id="toc_lst_NBK11586_A278" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A278"><a href="/books/n/fabry/A276/#A278" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A279"><a href="/books/n/fabry/A276/#A279" class="toc-item">Cellular pathophysiology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A282"><a href="/books/n/fabry/A276/#A282" class="toc-item">Effects of different mutations on pathophysiology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A284"><a href="/books/n/fabry/A276/#A284" class="toc-item">Factors influencing the clinical heterogeneity of LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A286"><a href="/books/n/fabry/A276/#A286" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x381e7a0"><a href="/books/n/fabry/A276/#N0x1d80330N0x381e7a0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A348"><a href="/books/n/fabry/A348/" class="toc-item">5. Importance of glycosylation in enzyme replacement therapy</a><div>Soumeya Bekri.</div><ul id="toc_lst_NBK11586_A350" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A350"><a href="/books/n/fabry/A348/#A350" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A351"><a href="/books/n/fabry/A348/#A351" class="toc-item">Structure and synthesis of α-galactosidase A</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A353"><a href="/books/n/fabry/A348/#A353" class="toc-item">Post-translational modifications</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A354"><a href="/books/n/fabry/A348/#A354" class="toc-item">Glycosylation</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x38864e0"><a href="/books/n/fabry/A348/#N0x1d80330N0x38864e0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A386"><a href="/books/n/fabry/A386/" class="toc-item">6. Animal models of lysosomal storage diseases: their development and clinical relevance</a><div>Mark E Haskins, Urs Giger, and Donald F Patterson.</div><ul id="toc_lst_NBK11586_A388" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A388"><a href="/books/n/fabry/A386/#A388" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A389"><a href="/books/n/fabry/A386/#A389" class="toc-item">The need for animal models</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A392"><a href="/books/n/fabry/A386/#A392" class="toc-item">Gene knockout technology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A393"><a href="/books/n/fabry/A386/#A393" class="toc-item">Use of larger animal models</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A398"><a href="/books/n/fabry/A386/#A398" class="toc-item">Clinical relevance to therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A402"><a href="/books/n/fabry/A386/#A402" class="toc-item">The α-galactosidase A knockout mouse</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A403"><a href="/books/n/fabry/A386/#A403" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A404"><a href="/books/n/fabry/A386/#A404" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x38d3168"><a href="/books/n/fabry/A386/#N0x1d80330N0x38d3168" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A513"><a href="/books/n/fabry/A513/" class="toc-item">7. General aspects of X-linked diseases</a><div>Dominique P Germain.</div><ul id="toc_lst_NBK11586_A515" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A515"><a href="/books/n/fabry/A513/#A515" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A517"><a href="/books/n/fabry/A513/#A517" class="toc-item">Random X-chromosome inactivation</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A519"><a href="/books/n/fabry/A513/#A519" class="toc-item">Identification of X-linked inheritance</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A531"><a href="/books/n/fabry/A513/#A531" class="toc-item">Identification of individuals heterozygous for X-linked diseases</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A534"><a href="/books/n/fabry/A513/#A534" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3968ce0"><a href="/books/n/fabry/A513/#N0x1d80330N0x3968ce0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A556"><a href="/books/n/fabry/A556/" class="toc-item">8. Laboratory diagnosis of lysosomal storage diseases</a><div>Soumeya Bekri.</div><ul id="toc_lst_NBK11586_A558" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A558"><a href="/books/n/fabry/A556/#A558" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A559"><a href="/books/n/fabry/A556/#A559" class="toc-item">Lysosomal enzyme function</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A566"><a href="/books/n/fabry/A556/#A566" class="toc-item">Lysosome biogenesis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A567"><a href="/books/n/fabry/A556/#A567" class="toc-item">Heterogeneity of LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A568"><a href="/books/n/fabry/A556/#A568" class="toc-item">Laboratory diagnosis of LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A578"><a href="/books/n/fabry/A556/#A578" class="toc-item">Non-immune hydrops fetalis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A579"><a href="/books/n/fabry/A556/#A579" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x39a5468"><a href="/books/n/fabry/A556/#N0x1d80330N0x39a5468" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A605"><a href="/books/n/fabry/A605/" class="toc-item">9. Biomarkers in lysosomal storage diseases</a><div>Timothy M Cox.</div><ul id="toc_lst_NBK11586_A607" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A607"><a href="/books/n/fabry/A605/#A607" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A608"><a href="/books/n/fabry/A605/#A608" class="toc-item">Categories of biomarker used in LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A611"><a href="/books/n/fabry/A605/#A611" class="toc-item">Characteristics of ideal biomarkers for LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A629"><a href="/books/n/fabry/A605/#A629" class="toc-item">Disease burden</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A630"><a href="/books/n/fabry/A605/#A630" class="toc-item">New biomarkers for LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A631"><a href="/books/n/fabry/A605/#A631" class="toc-item">Biomarkers in current use</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A635"><a href="/books/n/fabry/A605/#A635" class="toc-item">Use of biomarkers in screening for LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A636"><a href="/books/n/fabry/A605/#A636" class="toc-item">Discovery of new biomarkers for LSDs</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A637"><a href="/books/n/fabry/A605/#A637" class="toc-item">Clinical evaluation of biomarkers</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A640"><a href="/books/n/fabry/A605/#A640" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x39ed5c0"><a href="/books/n/fabry/A605/#N0x1d80330N0x39ed5c0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A684"><a href="/books/n/fabry/A684/" class="toc-item">10. Enzyme replacement therapy – a brief history</a><div>Elizabeth F Neufeld.</div><ul id="toc_lst_NBK11586_A686" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A686"><a href="/books/n/fabry/A684/#A686" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A687"><a href="/books/n/fabry/A684/#A687" class="toc-item">Corrective factors and recognition signals</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A689"><a href="/books/n/fabry/A684/#A689" class="toc-item">Development of enzyme replacement therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3a3c648"><a href="/books/n/fabry/A684/#N0x1d80330N0x3a3c648" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A745"><a href="/books/n/fabry/A745/" class="toc-item">11. Regulatory framework for the treatment of orphan diseases
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</a><div>Rashmi R Shah.</div><ul id="toc_lst_NBK11586_A748" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A748"><a href="/books/n/fabry/A745/#A748" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A749"><a href="/books/n/fabry/A745/#A749" class="toc-item">Orphan drug legislation in the EU</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A754"><a href="/books/n/fabry/A745/#A754" class="toc-item">Regulatory framework and processes in the EU</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A762"><a href="/books/n/fabry/A745/#A762" class="toc-item">Five-year experience and achievements in the EU</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A767"><a href="/books/n/fabry/A745/#A767" class="toc-item">Orphan drug legislation in the USA and Japan</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A770"><a href="/books/n/fabry/A745/#A770" class="toc-item">Access and reimbursement</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A779"><a href="/books/n/fabry/A745/#A779" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A781"><a href="/books/n/fabry/A745/#A781" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3ad6be8"><a href="/books/n/fabry/A745/#N0x1d80330N0x3ad6be8" class="toc-item">References</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A780"><a href="/books/n/fabry/A745/#A780" class="toc-item">Useful websites for further information</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A788"><a href="/books/n/fabry/A788/" class="toc-item">12. Role of patient support groups in lysosomal storage diseases</a><div>Christine Lavery.</div><ul id="toc_lst_NBK11586_A790" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A790"><a href="/books/n/fabry/A788/#A790" class="toc-item">In the beginning</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A791"><a href="/books/n/fabry/A788/#A791" class="toc-item">Making a difference</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A795"><a href="/books/n/fabry/A788/#A795" class="toc-item">Advocacy and support</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A804"><a href="/books/n/fabry/A788/#A804" class="toc-item">Fulfilling an educational role</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A805"><a href="/books/n/fabry/A788/#A805" class="toc-item">Data collection</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A806"><a href="/books/n/fabry/A788/#A806" class="toc-item">Lobbying and campaigning</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A807"><a href="/books/n/fabry/A788/#A807" class="toc-item">Working in partnership</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A808"><a href="/books/n/fabry/A788/#A808" class="toc-item">International collaboration</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A809"><a href="/books/n/fabry/A788/#A809" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3af8a88"><a href="/books/n/fabry/A788/#N0x1d80330N0x3af8a88" class="toc-item">Reference</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A810"><a href="/books/n/fabry/A788/#A810" class="toc-item">Patient support groups</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A812"><a href="/books/n/fabry/A812/" class="toc-item">13. The patient's perspective of Fabry disease – a report from the German Fabry Patient Support Group</a><div>Ditmar Basalla.</div><ul id="toc_lst_NBK11586_A814" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A814"><a href="/books/n/fabry/A812/#A814" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A817"><a href="/books/n/fabry/A812/#A817" class="toc-item">Information from patients for patients</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A829"><a href="/books/n/fabry/A812/#A829" class="toc-item">Information for physicians and specialized medical staff</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A830"><a href="/books/n/fabry/A812/#A830" class="toc-item">Working at an international level</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A832"><a href="/books/n/fabry/A812/#A832" class="toc-item">Outlook</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3b08420"><a href="/books/n/fabry/A812/#N0x1d80330N0x3b08420" class="toc-item">References</a></li></ul></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_Section2_bxml"><a href="/books/n/fabry/Section2.bxml/" class="toc-item">Section 2. Development of FOS - the Fabry Outcome Survey</a><ul id="toc_lst_NBK11586_A839" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A839"><a href="/books/n/fabry/A839/" class="toc-item">14. Formal trials versus observational studies</a><div>Ravi Thadhani.</div><ul id="toc_lst_NBK11586_A841" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A841"><a href="/books/n/fabry/A839/#A841" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A842"><a href="/books/n/fabry/A839/#A842" class="toc-item">Randomized clinical trials</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A845"><a href="/books/n/fabry/A839/#A845" class="toc-item">Need for observational studies to evaluate healthcare</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A848"><a href="/books/n/fabry/A839/#A848" class="toc-item">Importance of outcomes databases</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A853"><a href="/books/n/fabry/A839/#A853" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A854"><a href="/books/n/fabry/A839/#A854" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3b0efb8"><a href="/books/n/fabry/A839/#N0x1d80330N0x3b0efb8" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A873"><a href="/books/n/fabry/A873/" class="toc-item">15. Organization and technical aspects of FOS – the Fabry Outcome Survey</a><div>Elizabeth Hernberg-Ståhl.</div><ul id="toc_lst_NBK11586_A875" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A875"><a href="/books/n/fabry/A873/#A875" class="toc-item">History and aims</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A876"><a href="/books/n/fabry/A873/#A876" class="toc-item">Organization of FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A878"><a href="/books/n/fabry/A873/#A878" class="toc-item">Data capture</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A879"><a href="/books/n/fabry/A873/#A879" class="toc-item">Patient questionnaires</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A888"><a href="/books/n/fabry/A873/#A888" class="toc-item">The FOS system</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A890"><a href="/books/n/fabry/A873/#A890" class="toc-item">Protecting patient privacy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A891"><a href="/books/n/fabry/A873/#A891" class="toc-item">Usability</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A893"><a href="/books/n/fabry/A873/#A893" class="toc-item">Data quality</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A894"><a href="/books/n/fabry/A873/#A894" class="toc-item">Patient management</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A895"><a href="/books/n/fabry/A873/#A895" class="toc-item">Role of FOS in pharmacovigilance</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A896"><a href="/books/n/fabry/A873/#A896" class="toc-item">Publications arising from FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A898"><a href="/books/n/fabry/A873/#A898" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3b448c0"><a href="/books/n/fabry/A873/#N0x1d80330N0x3b448c0" class="toc-item">References</a></li></ul></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_Section3_bxml"><a href="/books/n/fabry/Section3.bxml/" class="toc-item">Section 3. Fabry disease: clinical features and natural course</a><ul id="toc_lst_NBK11586_A917" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A917"><a href="/books/n/fabry/A917/" class="toc-item">16. Demographics of FOS – the Fabry Outcome Survey</a><div>Michael Beck.</div><ul id="toc_lst_NBK11586_A919" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A919"><a href="/books/n/fabry/A917/#A919" class="toc-item">Patient demographics</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A922"><a href="/books/n/fabry/A917/#A922" class="toc-item">Delay in diagnosis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A923"><a href="/books/n/fabry/A917/#A923" class="toc-item">Reported signs and symptoms in male and female patients</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A926"><a href="/books/n/fabry/A917/#A926" class="toc-item">Children in FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A928"><a href="/books/n/fabry/A917/#A928" class="toc-item">Mortality</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A929"><a href="/books/n/fabry/A917/#A929" class="toc-item">Enzyme replacement therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A933"><a href="/books/n/fabry/A917/#A933" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3b74ac0"><a href="/books/n/fabry/A917/#N0x1d80330N0x3b74ac0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A944"><a href="/books/n/fabry/A944/" class="toc-item">17. Diagnosis of Fabry disease: the role of screening and case-finding studies</a><div>Gere Sunder-Plassmann and Manuela Födinger.</div><ul id="toc_lst_NBK11586_A947" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A947"><a href="/books/n/fabry/A944/#A947" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A950"><a href="/books/n/fabry/A944/#A950" class="toc-item">Who makes the diagnosis?</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A952"><a href="/books/n/fabry/A944/#A952" class="toc-item">Screening and case-finding</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A957"><a href="/books/n/fabry/A944/#A957" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3ba4b50"><a href="/books/n/fabry/A944/#N0x1d80330N0x3ba4b50" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A991"><a href="/books/n/fabry/A991/" class="toc-item">18. Biochemical and genetic diagnosis of Fabry disease</a><div>Bryan Winchester and Elisabeth Young.</div><ul id="toc_lst_NBK11586_A993" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A993"><a href="/books/n/fabry/A991/#A993" class="toc-item">Biochemistry and structure of α-galactosidase A</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A995"><a href="/books/n/fabry/A991/#A995" class="toc-item">Practical aspects of enzyme determination</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1000"><a href="/books/n/fabry/A991/#A1000" class="toc-item">Male patients with residual α-galactosidase activity</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1001"><a href="/books/n/fabry/A991/#A1001" class="toc-item">Prenatal diagnosis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1002"><a href="/books/n/fabry/A991/#A1002" class="toc-item">Measurement of storage products</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1006"><a href="/books/n/fabry/A991/#A1006" class="toc-item">Methods of genetic diagnosis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1007"><a href="/books/n/fabry/A991/#A1007" class="toc-item">Types of mutations/polymorphisms</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1008"><a href="/books/n/fabry/A991/#A1008" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1009"><a href="/books/n/fabry/A991/#A1009" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3c19c68"><a href="/books/n/fabry/A991/#N0x1d80330N0x3c19c68" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1073"><a href="/books/n/fabry/A1073/" class="toc-item">19. Natural history of Fabry disease</a><div>Atul Mehta and Urs Widmer.</div><ul id="toc_lst_NBK11586_A1076" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1076"><a href="/books/n/fabry/A1073/#A1076" class="toc-item">Classic Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1090"><a href="/books/n/fabry/A1073/#A1090" class="toc-item">Fabry disease in women and children</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1091"><a href="/books/n/fabry/A1073/#A1091" class="toc-item">Atypical variants of Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1092"><a href="/books/n/fabry/A1073/#A1092" class="toc-item">Cause of death in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1095"><a href="/books/n/fabry/A1073/#A1095" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3c7ee10"><a href="/books/n/fabry/A1073/#N0x1d80330N0x3c7ee10" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1117"><a href="/books/n/fabry/A1117/" class="toc-item">20. The heart in Fabry disease</a><div>Aleš Linhart.</div><ul id="toc_lst_NBK11586_A1119" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1119"><a href="/books/n/fabry/A1117/#A1119" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1121"><a href="/books/n/fabry/A1117/#A1121" class="toc-item">Pathogenesis of the cardiac involvement</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1123"><a href="/books/n/fabry/A1117/#A1123" class="toc-item">Cardiac hypertrophy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1128"><a href="/books/n/fabry/A1117/#A1128" class="toc-item">LV function</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1130"><a href="/books/n/fabry/A1117/#A1130" class="toc-item">Ischaemia and coronary events</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1131"><a href="/books/n/fabry/A1117/#A1131" class="toc-item">Electrophysiological abnormalities and arrhythmias</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1132"><a href="/books/n/fabry/A1117/#A1132" class="toc-item">Valvular involvement</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1135"><a href="/books/n/fabry/A1117/#A1135" class="toc-item">Cardiac variant</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1136"><a href="/books/n/fabry/A1117/#A1136" class="toc-item">Clinical symptoms</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1138"><a href="/books/n/fabry/A1117/#A1138" class="toc-item">Treatment issues</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1139"><a href="/books/n/fabry/A1117/#A1139" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3cb9e80"><a href="/books/n/fabry/A1117/#N0x1d80330N0x3cb9e80" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1197"><a href="/books/n/fabry/A1197/" class="toc-item">21. Renal manifestations of Fabry disease</a><div>Gere Sunder-Plassmann.</div><ul id="toc_lst_NBK11586_A1199" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1199"><a href="/books/n/fabry/A1197/#A1199" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1200"><a href="/books/n/fabry/A1197/#A1200" class="toc-item">The progressive nature of renal involvement in patients with Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1209"><a href="/books/n/fabry/A1197/#A1209" class="toc-item">Histopathology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1214"><a href="/books/n/fabry/A1197/#A1214" class="toc-item">Renal imaging</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1220"><a href="/books/n/fabry/A1197/#A1220" class="toc-item">Renal replacement therapy in patients with Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1224"><a href="/books/n/fabry/A1197/#A1224" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3d2d6b8"><a href="/books/n/fabry/A1197/#N0x1d80330N0x3d2d6b8" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1309"><a href="/books/n/fabry/A1309/" class="toc-item">22. Neurological manifestations of Fabry disease</a><div>Raphael Schiffmann and David F Moore.</div><ul id="toc_lst_NBK11586_A1312" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1312"><a href="/books/n/fabry/A1309/#A1312" class="toc-item">Vasculopathy and stroke</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1319"><a href="/books/n/fabry/A1309/#A1319" class="toc-item">Peripheral neuropathy and hypohidrosis</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1322"><a href="/books/n/fabry/A1309/#A1322" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3d9f128"><a href="/books/n/fabry/A1309/#N0x1d80330N0x3d9f128" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1392"><a href="/books/n/fabry/A1392/" class="toc-item">23. Nervous system manifestations of Fabry disease: data from FOS – the Fabry Outcome Survey</a><div>Lionel Ginsberg.</div><ul id="toc_lst_NBK11586_A1395" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1395"><a href="/books/n/fabry/A1392/#A1395" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1406"><a href="/books/n/fabry/A1392/#A1406" class="toc-item">Ischaemic stroke</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1409"><a href="/books/n/fabry/A1392/#A1409" class="toc-item">Vascular risk factors</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1411"><a href="/books/n/fabry/A1392/#A1411" class="toc-item">Magnetic resonance imaging</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1413"><a href="/books/n/fabry/A1392/#A1413" class="toc-item">Other CNS diseases</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1414"><a href="/books/n/fabry/A1392/#A1414" class="toc-item">Peripheral neuropathy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1415"><a href="/books/n/fabry/A1392/#A1415" class="toc-item">Treatment</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1416"><a href="/books/n/fabry/A1392/#A1416" class="toc-item">Conclusions and future prospects</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3e11540"><a href="/books/n/fabry/A1392/#N0x1d80330N0x3e11540" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1445"><a href="/books/n/fabry/A1445/" class="toc-item">24. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy</a><div>Olivier Lidove, Roland Jaussaud, and Sélim Aractingi.</div><ul id="toc_lst_NBK11586_A1449" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1449"><a href="/books/n/fabry/A1445/#A1449" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1450"><a href="/books/n/fabry/A1445/#A1450" class="toc-item">Pathology of cutaneous lesions in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1453"><a href="/books/n/fabry/A1445/#A1453" class="toc-item">Sweating</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1456"><a href="/books/n/fabry/A1445/#A1456" class="toc-item">Lymphoedema</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1457"><a href="/books/n/fabry/A1445/#A1457" class="toc-item">Acroparaesthesia</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1458"><a href="/books/n/fabry/A1445/#A1458" class="toc-item">Facial dysmorphia</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1459"><a href="/books/n/fabry/A1445/#A1459" class="toc-item">Response to ERT</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1467"><a href="/books/n/fabry/A1445/#A1467" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3e4d680"><a href="/books/n/fabry/A1445/#N0x1d80330N0x3e4d680" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1499"><a href="/books/n/fabry/A1499/" class="toc-item">25. Fabry disease and the ear</a><div>Annerose Keilmann, Stefan Hegemann, Guido Conti, and Daniel Hajioff.</div><ul id="toc_lst_NBK11586_A1504" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1504"><a href="/books/n/fabry/A1499/#A1504" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1505"><a href="/books/n/fabry/A1499/#A1505" class="toc-item">Histopathology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1506"><a href="/books/n/fabry/A1499/#A1506" class="toc-item">Natural history of hearing loss in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1512"><a href="/books/n/fabry/A1499/#A1512" class="toc-item">Effects of ERT on hearing</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1513"><a href="/books/n/fabry/A1499/#A1513" class="toc-item">Tinnitus</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1515"><a href="/books/n/fabry/A1499/#A1515" class="toc-item">Vertigo</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1517"><a href="/books/n/fabry/A1499/#A1517" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3e81f68"><a href="/books/n/fabry/A1499/#N0x1d80330N0x3e81f68" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1535"><a href="/books/n/fabry/A1535/" class="toc-item">26. Ophthalmological manifestations of Fabry disease</a><div>Andrea Sodi, Alex Ioannidis, and Susanne Pitz.</div><ul id="toc_lst_NBK11586_A1539" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1539"><a href="/books/n/fabry/A1535/#A1539" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1540"><a href="/books/n/fabry/A1535/#A1540" class="toc-item">Common ocular findings</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1553"><a href="/books/n/fabry/A1535/#A1553" class="toc-item">Occasional ocular findings</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1557"><a href="/books/n/fabry/A1535/#A1557" class="toc-item">Prevalence and clinical significance of ocular manifestations</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1559"><a href="/books/n/fabry/A1535/#A1559" class="toc-item">Enzyme replacement therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1560"><a href="/books/n/fabry/A1535/#A1560" class="toc-item">Future developments</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1561"><a href="/books/n/fabry/A1535/#A1561" class="toc-item">Ocular manifestations in FOS –the Fabry Outcome Survey</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1569"><a href="/books/n/fabry/A1535/#A1569" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3ed7780"><a href="/books/n/fabry/A1535/#N0x1d80330N0x3ed7780" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1627"><a href="/books/n/fabry/A1627/" class="toc-item">27. Pulmonary involvement in Fabry disease</a><div>John D Aubert and Frédéric Barbey.</div><ul id="toc_lst_NBK11586_A1630" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1630"><a href="/books/n/fabry/A1627/#A1630" class="toc-item">Historical background</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1631"><a href="/books/n/fabry/A1627/#A1631" class="toc-item">Data from FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1635"><a href="/books/n/fabry/A1627/#A1635" class="toc-item">Potential mechanisms of airflow limitation in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1637"><a href="/books/n/fabry/A1627/#A1637" class="toc-item">Treatment</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1638"><a href="/books/n/fabry/A1627/#A1638" class="toc-item">Future areas of research</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1639"><a href="/books/n/fabry/A1627/#A1639" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3f25850"><a href="/books/n/fabry/A1627/#N0x1d80330N0x3f25850" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1663"><a href="/books/n/fabry/A1663/" class="toc-item">28. Gastrointestinal manifestations of Fabry disease</a><div>Satish Keshav.</div><ul id="toc_lst_NBK11586_A1665" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1665"><a href="/books/n/fabry/A1663/#A1665" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1666"><a href="/books/n/fabry/A1663/#A1666" class="toc-item">Gastrointestinal features of Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1667"><a href="/books/n/fabry/A1663/#A1667" class="toc-item">Pathophysiology</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1669"><a href="/books/n/fabry/A1663/#A1669" class="toc-item">Natural course</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1672"><a href="/books/n/fabry/A1663/#A1672" class="toc-item">Response to ERT</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1676"><a href="/books/n/fabry/A1663/#A1676" class="toc-item">Outstanding questions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3f44e20"><a href="/books/n/fabry/A1663/#N0x1d80330N0x3f44e20" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1706"><a href="/books/n/fabry/A1706/" class="toc-item">29. Neuropsychiatric and psychosocial aspects of Fabry disease</a><div>Matthias J Müller.</div><ul id="toc_lst_NBK11586_A1708" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1708"><a href="/books/n/fabry/A1706/#A1708" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1709"><a href="/books/n/fabry/A1706/#A1709" class="toc-item">Methods</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1713"><a href="/books/n/fabry/A1706/#A1713" class="toc-item">Results</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1724"><a href="/books/n/fabry/A1706/#A1724" class="toc-item">Discussion</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1733"><a href="/books/n/fabry/A1706/#A1733" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x3facd30"><a href="/books/n/fabry/A1706/#N0x1d80330N0x3facd30" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1775"><a href="/books/n/fabry/A1775/" class="toc-item">30. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy</a><div>Patrick B Deegan, Frank Bähner, Miguel Barba, Derralynn A Hughes, and Michael Beck.</div><ul id="toc_lst_NBK11586_A1780" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1780"><a href="/books/n/fabry/A1775/#A1780" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1781"><a href="/books/n/fabry/A1775/#A1781" class="toc-item">Evidence for the effects of Fabry disease in female patients</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1790"><a href="/books/n/fabry/A1775/#A1790" class="toc-item">FOS data</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1802"><a href="/books/n/fabry/A1775/#A1802" class="toc-item">Relationship between X-inactivation, enzyme levels and disease severity</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1803"><a href="/books/n/fabry/A1775/#A1803" class="toc-item">ERT in females</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1804"><a href="/books/n/fabry/A1775/#A1804" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x40159f8"><a href="/books/n/fabry/A1775/#N0x1d80330N0x40159f8" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1837"><a href="/books/n/fabry/A1837/" class="toc-item">31. Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease</a><div>Uma Ramaswami, Rosella Parini, and Guillem Pintos-Morell.</div><ul id="toc_lst_NBK11586_A1841" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1841"><a href="/books/n/fabry/A1837/#A1841" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1842"><a href="/books/n/fabry/A1837/#A1842" class="toc-item">Natural course of Fabry disease in children</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1843"><a href="/books/n/fabry/A1837/#A1843" class="toc-item">FOS data</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1857"><a href="/books/n/fabry/A1837/#A1857" class="toc-item">Discussion</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1858"><a href="/books/n/fabry/A1837/#A1858" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x406b2d0"><a href="/books/n/fabry/A1837/#N0x1d80330N0x406b2d0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1878"><a href="/books/n/fabry/A1878/" class="toc-item">32. Measurement of disease severity and progression in Fabry disease</a><div>Catharina Whybra, Frank Bähner, and Karin Baron.</div><ul id="toc_lst_NBK11586_A1880" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1880"><a href="/books/n/fabry/A1878/#A1880" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1881"><a href="/books/n/fabry/A1878/#A1881" class="toc-item">Mainz Severity Score Index</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1883"><a href="/books/n/fabry/A1878/#A1883" class="toc-item">Development of a scoring system for use in FOS – the Fabry Outcome Survey</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1892"><a href="/books/n/fabry/A1878/#A1892" class="toc-item">Discussion</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1893"><a href="/books/n/fabry/A1878/#A1893" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4089a78"><a href="/books/n/fabry/A1878/#N0x1d80330N0x4089a78" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1903"><a href="/books/n/fabry/A1903/" class="toc-item">33. The genetic basis of Fabry disease</a><div>Andreas Gal, Ellen Schäfer, and Imke Rohard.</div><ul id="toc_lst_NBK11586_A1905" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1905"><a href="/books/n/fabry/A1903/#A1905" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1906"><a href="/books/n/fabry/A1903/#A1906" class="toc-item">Classification and nomenclature of mutations</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1910"><a href="/books/n/fabry/A1903/#A1910" class="toc-item">Polymorphisms and rare sequence variants of the GLA gene</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1912"><a href="/books/n/fabry/A1903/#A1912" class="toc-item">The GLA gene and its mutations in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1919"><a href="/books/n/fabry/A1903/#A1919" class="toc-item">The gene product</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x40dc658"><a href="/books/n/fabry/A1903/#N0x1d80330N0x40dc658" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A1929"><a href="/books/n/fabry/A1929/" class="toc-item">34. Genotype–phenotype correlation in Fabry disease</a><div>Markus Ries and Andreas Gal.</div><ul id="toc_lst_NBK11586_A1932" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1932"><a href="/books/n/fabry/A1929/#A1932" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1933"><a href="/books/n/fabry/A1929/#A1933" class="toc-item">General and epidemiological considerations</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1934"><a href="/books/n/fabry/A1929/#A1934" class="toc-item">Residual enzyme activity and phenotypic variants</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1937"><a href="/books/n/fabry/A1929/#A1937" class="toc-item">Pharmacogenomics</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1938"><a href="/books/n/fabry/A1929/#A1938" class="toc-item">Female heterozygotes</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1939"><a href="/books/n/fabry/A1929/#A1939" class="toc-item">Genetic modifiers</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1940"><a href="/books/n/fabry/A1929/#A1940" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1941"><a href="/books/n/fabry/A1929/#A1941" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4100348"><a href="/books/n/fabry/A1929/#N0x1d80330N0x4100348" class="toc-item">References</a></li></ul></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_Section4_bxml"><a href="/books/n/fabry/Section4.bxml/" class="toc-item">Section 4. Selected aspects of the clinical management of Fabry disease</a><ul id="toc_lst_NBK11586_A1963" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1963"><a href="/books/n/fabry/A1963/" class="toc-item">35. A multidisciplinary approach to the care of patients with Fabry disease</a><div>Derralynn A Hughes, Sian Evans, Alan Milligan, Linda Richfield, and Atul Mehta.</div><ul id="toc_lst_NBK11586_A1965" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A1965"><a href="/books/n/fabry/A1963/#A1965" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1966"><a href="/books/n/fabry/A1963/#A1966" class="toc-item">The multidisciplinary team approach</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A1996"><a href="/books/n/fabry/A1963/#A1996" class="toc-item">Holistic care</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2022"><a href="/books/n/fabry/A1963/#A2022" class="toc-item">Home therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2028"><a href="/books/n/fabry/A1963/#A2028" class="toc-item">Conclusions</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2029"><a href="/books/n/fabry/A2029/" class="toc-item">36. Development of enzyme replacement therapy for Fabry disease</a><div>Raphael Schiffmann and Roscoe O Brady.</div><ul id="toc_lst_NBK11586_A2031" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2031"><a href="/books/n/fabry/A2029/#A2031" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2032"><a href="/books/n/fabry/A2029/#A2032" class="toc-item">ERT using agalsidase alfa</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2049"><a href="/books/n/fabry/A2029/#A2049" class="toc-item">ERT using agalsidase beta</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2050"><a href="/books/n/fabry/A2029/#A2050" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x413e888"><a href="/books/n/fabry/A2029/#N0x1d80330N0x413e888" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2082"><a href="/books/n/fabry/A2082/" class="toc-item">37. Enzyme replacement therapy and the heart</a><div>Christoph Kampmann.</div><ul id="toc_lst_NBK11586_A2084" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2084"><a href="/books/n/fabry/A2082/#A2084" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2087"><a href="/books/n/fabry/A2082/#A2087" class="toc-item">Potential of ERT in relation to cardiac involvement</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2088"><a href="/books/n/fabry/A2082/#A2088" class="toc-item">Evidence of the benefits of ERT on cardiac manifestations</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2091"><a href="/books/n/fabry/A2082/#A2091" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4196610"><a href="/books/n/fabry/A2082/#N0x1d80330N0x4196610" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2118"><a href="/books/n/fabry/A2118/" class="toc-item">38. Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS – the Fabry Outcome Survey</a><div>Andreas Schwarting, Gere Sunder-Plassmann, Atul Mehta, and Michael Beck.</div><ul id="toc_lst_NBK11586_A2123" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2123"><a href="/books/n/fabry/A2118/#A2123" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2124"><a href="/books/n/fabry/A2118/#A2124" class="toc-item">Difficulties with registry studies</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2129"><a href="/books/n/fabry/A2118/#A2129" class="toc-item">Baseline characteristics of the patient cohort</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2137"><a href="/books/n/fabry/A2118/#A2137" class="toc-item">Agalsidase alfa therapy and renal function</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2149"><a href="/books/n/fabry/A2118/#A2149" class="toc-item">Discussion and conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x41f49c0"><a href="/books/n/fabry/A2118/#N0x1d80330N0x41f49c0" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2162"><a href="/books/n/fabry/A2162/" class="toc-item">39. Neurological effects of enzyme replacement therapy in Fabry disease</a><div>Raphael Schiffmann and David F Moore.</div><ul id="toc_lst_NBK11586_A2165" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2165"><a href="/books/n/fabry/A2162/#A2165" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2166"><a href="/books/n/fabry/A2162/#A2166" class="toc-item">Effect of ERT on the vasculopathy of Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2172"><a href="/books/n/fabry/A2162/#A2172" class="toc-item">Effect of ERT on the peripheral nervous system</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2181"><a href="/books/n/fabry/A2162/#A2181" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4209a80"><a href="/books/n/fabry/A2162/#N0x1d80330N0x4209a80" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2202"><a href="/books/n/fabry/A2202/" class="toc-item">40. Effects of enzyme replacement therapy on pain and overall quality of life</a><div>Björn Hoffmann.</div><ul id="toc_lst_NBK11586_A2204" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2204"><a href="/books/n/fabry/A2202/#A2204" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2205"><a href="/books/n/fabry/A2202/#A2205" class="toc-item">Pain in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2210"><a href="/books/n/fabry/A2202/#A2210" class="toc-item">QoL in Fabry disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2215"><a href="/books/n/fabry/A2202/#A2215" class="toc-item">Considerations relating to pain reduction and improved HRQoL</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2216"><a href="/books/n/fabry/A2202/#A2216" class="toc-item">Possible use of patient-reported outcomes as surrogate markers</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2217"><a href="/books/n/fabry/A2202/#A2217" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4243330"><a href="/books/n/fabry/A2202/#N0x1d80330N0x4243330" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2257"><a href="/books/n/fabry/A2257/" class="toc-item">41. Safety of enzyme replacement therapy</a><div>Frédéric Barbey and Françoise Livio.</div><ul id="toc_lst_NBK11586_A2260" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2260"><a href="/books/n/fabry/A2257/#A2260" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2261"><a href="/books/n/fabry/A2257/#A2261" class="toc-item">Definitions in FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2272"><a href="/books/n/fabry/A2257/#A2272" class="toc-item">Special reporting procedures in FOS</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2273"><a href="/books/n/fabry/A2257/#A2273" class="toc-item">Results</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2287"><a href="/books/n/fabry/A2257/#A2287" class="toc-item">Discussion</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2288"><a href="/books/n/fabry/A2257/#A2288" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x4288540"><a href="/books/n/fabry/A2257/#N0x1d80330N0x4288540" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2307"><a href="/books/n/fabry/A2307/" class="toc-item">42. Monitoring and follow-up of patients</a><div>Atul Mehta, Michael Beck, Aleš Linhart, and Gere Sunder-Plassmann.</div><ul id="toc_lst_NBK11586_A2312" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2312"><a href="/books/n/fabry/A2307/#A2312" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2313"><a href="/books/n/fabry/A2307/#A2313" class="toc-item">Assessment of patients</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2352"><a href="/books/n/fabry/A2307/#A2352" class="toc-item">Criteria for starting ERT</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2372"><a href="/books/n/fabry/A2307/#A2372" class="toc-item">Follow-up of patients</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2401"><a href="/books/n/fabry/A2307/#A2401" class="toc-item">Home therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2402"><a href="/books/n/fabry/A2307/#A2402" class="toc-item">Criteria for stopping treatment</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2403"><a href="/books/n/fabry/A2307/#A2403" class="toc-item">Criteria for ERT in children under 18 years of age</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2404"><a href="/books/n/fabry/A2307/#A2404" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x42bed98"><a href="/books/n/fabry/A2307/#N0x1d80330N0x42bed98" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2417"><a href="/books/n/fabry/A2417/" class="toc-item">43. Possible future therapies for Fabry disease</a><div>Roscoe O Brady and Raphael Schiffmann.</div><ul id="toc_lst_NBK11586_A2419" class="simple-list toc bktoc_lst_exp"><li class="half_rhythm" id="toc_itm_NBK11586_A2419"><a href="/books/n/fabry/A2417/#A2419" class="toc-item">Introduction</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2420"><a href="/books/n/fabry/A2417/#A2420" class="toc-item">Molecular chaperone therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2421"><a href="/books/n/fabry/A2417/#A2421" class="toc-item">Substrate reduction therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2422"><a href="/books/n/fabry/A2417/#A2422" class="toc-item">Gene editing</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2423"><a href="/books/n/fabry/A2417/#A2423" class="toc-item">Gene therapy</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2424"><a href="/books/n/fabry/A2417/#A2424" class="toc-item">Infusions of structurally modified α-galactosidase A</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2425"><a href="/books/n/fabry/A2417/#A2425" class="toc-item">Therapies based on the downstream mechanism of disease</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2426"><a href="/books/n/fabry/A2417/#A2426" class="toc-item">Conclusions</a></li><li class="half_rhythm" id="toc_itm_NBK11586_A2427"><a href="/books/n/fabry/A2417/#A2427" class="toc-item">Acknowledgements</a></li><li class="half_rhythm" id="toc_itm_NBK11586_N0x1d80330N0x42e1388"><a href="/books/n/fabry/A2417/#N0x1d80330N0x42e1388" class="toc-item">References</a></li></ul></li><li class="half_rhythm" id="toc_itm_NBK11586_A2475"><a href="/books/n/fabry/A2475/" class="toc-item">44. Concluding remarks</a><div>Atul Mehta, Michael Beck, Aleš Linhart, and Gere Sunder-Plassmann.</div></li></ul></li></ul><div class="bktoc_all_cntnr align_right" style="display:none"><ul class="inline_list_right"><li><a class="bktoc_all_exp" href="#">Expand All</a></li><li style="margin-left:.8em"><a class="bktoc_all_clps" href="#">Collapse All</a></li></ul></div></div><div><p>Supported by an unrestricted educational grant by Shire HGT.</p></div><div><p>The information contained in this publication does not necessarily reflect the opinions
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or recommendations of the publishers or sponsors. The dosages, indications and methods
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of use for the product(s) referred to by the authors may not necessarily be those
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indicated on the Summary of Product Characteristics or the US Prescribing Information
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for the product(s) and may reflect the clinical experience of the authors or may be
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derived from the pharmaceutical literature or other clinical sources. When diagnosing
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and treating patients, doctors should take into account the individual patient's
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condition(s) and should consult officially approved monographs such as the Summary of
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Product Characteristics or US Prescribing Information prior to following any procedures
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or treatments based on data presented in this book. </p></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK11586/?report=reader">PubReader</a></li><li><a href="/books/NBK11586/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK11586" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK11586" style="display:none" title="Cite this Page"><div class="bk_tt">Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. <span class="bk_cite_avail"></span></div></div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=nlmcatalog&DbFrom=books&Cmd=Link&LinkName=books_nlmcatalog&IdsFromResult=1649274" ref="log$=recordlinks">NLM Catalog</a><div class="brieflinkpop offscreen_noflow">Related NLM Catalog Entries</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/15744039" ref="ordinalpos=1&linkpos=1&log$=relatedarticles&logdbfrom=pubmed">Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).</a><span class="source">[J Med Genet. 2005]</span><div class="brieflinkpop offscreen_noflow">Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R, FOS European Investigators. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">J Med Genet. 2005 Mar; 42(3):247-52. </em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/15606727" ref="ordinalpos=1&linkpos=2&log$=relatedarticles&logdbfrom=pubmed">Fabry disease: overall effects of agalsidase alfa treatment.</a><span class="source">[Eur J Clin Invest. 2004]</span><div class="brieflinkpop offscreen_noflow">Fabry disease: overall effects of agalsidase alfa treatment.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C, Linhart A, Sunder-Plassmann G, Houge G, Ramaswami U, et al. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">Eur J Clin Invest. 2004 Dec; 34(12):838-44. </em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/21290680" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS – the Fabry Outcome Survey.</a><span class="source">[Fabry Disease: Perspectives fr...]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS – the Fabry Outcome Survey.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Schwarting A, Sunder-Plassmann G, Mehta A, Beck M. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">Fabry Disease: Perspectives from 5 Years of FOS. 2006</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/19925283" ref="ordinalpos=1&linkpos=4&log$=relatedarticles&logdbfrom=pubmed">Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.</a><span class="source">[Ren Fail. 2009]</span><div class="brieflinkpop offscreen_noflow">Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Thofehrn S, Netto C, Cecchin C, Burin M, Matte U, Brustolin S, Nunes AC, Coelho J, Tsao M, Jardim L, et al. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">Ren Fail. 2009; 31(9):773-8. </em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/22946754" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Agalsidase alfa: a review of its use in the management of Fabry disease.</a><span class="source">[BioDrugs. 2012]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Agalsidase alfa: a review of its use in the management of Fabry disease.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Keating GM. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">BioDrugs. 2012 Oct 1; 26(5):335-54. </em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=21290683" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=21290683" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d66f1567c23b31e0bea2f0">Fabry Disease</a><div class="ralinkpop offscreen_noflow">Fabry Disease<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_qry two_line"><a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d66f0dcde49f3df7e7c51e">NLM Catalog Links for Books (Select 1649274) <span class="number">(1)</span></a><div class="tertiary">NLM Catalog</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d66f0b2f30673f7b03aa1d">Concluding remarks - Fabry Disease</a><div class="ralinkpop offscreen_noflow">Concluding remarks - Fabry Disease<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d66f0acde49f3df7e7b9f2">Possible future therapies for Fabry disease - Fabry Disease</a><div class="ralinkpop offscreen_noflow">Possible future therapies for Fabry disease - Fabry Disease<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d66f0a67c23b31e0be8028">Monitoring and follow-up of patients - Fabry Disease</a><div class="ralinkpop offscreen_noflow">Monitoring and follow-up of patients - Fabry Disease<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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