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<meta name="keywords" content="C4022946, abnormal glycosylation, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=868547
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal glycosylation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868547</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C4022946</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012345">HP:0012345</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4022946[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=868547">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=868547" ref="ncbi_uid=868547">V</a></span></span><span class="TLline">Abnormal glycosylation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1703500" ref="tree=MeSH" title="MedGen record for Abnormal metabolism">Abnormal metabolism</a></span><ul><li><span class="matched_ds">Abnormal glycosylation</span><ul><li><span class="TLline"><a href="/medgen/868546" ref="tree=MeSH" title="MedGen record for Abnormal protein glycosylation">Abnormal protein glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/868545" ref="tree=MeSH" title="MedGen record for Abnormal protein N-linked glycosylation">Abnormal protein N-linked glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/1688563" ref="tree=MeSH" title="MedGen record for Abnormal complex N-glycan level">Abnormal complex N-glycan level</a></span></li><li><span class="TLline"><a href="/medgen/868540" ref="tree=MeSH" title="MedGen record for Abnormal fucosylation of protein N-linked glycosylation">Abnormal fucosylation of protein N-linked glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1699405" ref="tree=MeSH" title="MedGen record for Abnormal high-mannose N-glycan level">Abnormal high-mannose N-glycan level</a></span></li><li><span class="TLline"><a href="/medgen/413671" ref="tree=MeSH" title="MedGen record for Abnormal isoelectric focusing of serum transferrin">Abnormal isoelectric focusing of serum transferrin</a></span></li><li><span class="TLline"><a href="/medgen/868537" ref="tree=MeSH" title="MedGen record for Abnormal mannosylation of N-linked protein glycosylation">Abnormal mannosylation of N-linked protein glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/868543" ref="tree=MeSH" title="MedGen record for Abnormal sialylation of N-linked protein glycosylation">Abnormal sialylation of N-linked protein glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/868544" ref="tree=MeSH" title="MedGen record for Decreased galactosylation of N-linked protein glycosylation">Decreased galactosylation of N-linked protein glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868534" ref="tree=MeSH" title="MedGen record for Abnormal protein O-linked glycosylation">Abnormal protein O-linked glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/1706968" ref="tree=MeSH" title="MedGen record for Abnormal core 1 O-glycan level">Abnormal core 1 O-glycan level</a></span></li><li><span class="TLline"><a href="/medgen/868533" ref="tree=MeSH" title="MedGen record for Abnormal fucosylation of O-linked protein glycosylation">Abnormal fucosylation of O-linked protein glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/868530" ref="tree=MeSH" title="MedGen record for Abnormal sialylation of O-linked protein glycosylation">Abnormal sialylation of O-linked protein glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/767302" ref="tree=MeSH" title="MedGen record for Decreased O-mannosyl glycans on alpha-dystroglycan">Decreased O-mannosyl glycans on alpha-dystroglycan</a></span></li><li><span class="TLline"><a href="/medgen/1687356" ref="tree=MeSH" title="MedGen record for Increased Tn-antigen level">Increased Tn-antigen level</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_419309"><div><strong>STT3B-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419309</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931007</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of glycosylation type Ix (CDG1X) is a rare autosomal recessive disorder of protein glycosylation. Clinical features include hypotonia, developmental delay, seizures and respiratory difficulties (Shrimal et al., 2013; Kilic and Akkus, 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419309">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_906792"><div><strong>CCDC115-CDG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906792</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225191</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).&#13; For a general discussion of CDGs, see CDG1A (212065).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/906792">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_904125"><div><strong>Developmental and epileptic encephalopathy, 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904125</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225320</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017).&#13; For a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/904125">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1390458"><div><strong>Congenital disorder of glycosylation, type IIq</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1390458</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4479353</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1390458">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794145"><div><strong>STT3A-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794145</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561935</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene &lt;i&gt;STT3A&lt;/i&gt; (11q23.3).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794145">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CCDC115-CDG</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1390458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIq</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 50</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STT3A-congenital disorder of glycosylation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">STT3B-congenital disorder of glycosylation</a></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37536407">Therapeutic potential of lectins in the treatment of breast cancer: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bektas S,
Kaptan E</span><br />
<span class="medgenPMjournal">Int J Biol Macromol</span>
2023 Sep 30;249:126073.
Epub 2023 Aug 2
doi: 10.1016/j.ijbiomac.2023.126073.
<span class="bold">PMID: </span><a href="/pubmed/37536407" target="_blank">37536407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36091064">Abnormal B cell glycosylation in autoimmunity: A new potential treatment strategy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morel M,
Pochard P,
Echchih W,
Dueymes M,
Bagacean C,
Jousse-Joulin S,
Devauchelle-Pensec V,
Cornec D,
Jamin C,
Pers JO,
Bordron A</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2022;13:975963.
Epub 2022 Aug 25
doi: 10.3389/fimmu.2022.975963.
<span class="bold">PMID: </span><a href="/pubmed/36091064" target="_blank">36091064</a><a href="/pmc/articles/PMC9453492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34884967">Dystroglycanopathy: From Elucidation of Molecular and Pathological Mechanisms to Development of Treatment Methods.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kanagawa M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2021 Dec 6;22(23)
doi: 10.3390/ijms222313162.
<span class="bold">PMID: </span><a href="/pubmed/34884967" target="_blank">34884967</a><a href="/pmc/articles/PMC8658603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormal%20glycosylation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/39098853">Glycosylation: mechanisms, biological functions and clinical implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He M,
Zhou X,
Wang X</span><br />
<span class="medgenPMjournal">Signal Transduct Target Ther</span>
2024 Aug 5;9(1):194.
doi: 10.1038/s41392-024-01886-1.
<span class="bold">PMID: </span><a href="/pubmed/39098853" target="_blank">39098853</a><a href="/pmc/articles/PMC11298558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36000484">Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donoghue SE,
Heath O,
Pitt J,
Hong KM,
Fuller M,
Smith J</span><br />
<span class="medgenPMjournal">Clin Chem Lab Med</span>
2022 Oct 26;60(11):1855-1858.
Epub 2022 Aug 25
doi: 10.1515/cclm-2022-0473.
<span class="bold">PMID: </span><a href="/pubmed/36000484" target="_blank">36000484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35181605">D-mannose facilitates immunotherapy and radiotherapy of triple-negative breast cancer via degradation of PD-L1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang R,
Yang Y,
Dong W,
Lin M,
He J,
Zhang X,
Tian T,
Yang Y,
Chen K,
Lei QY,
Zhang S,
Xu Y,
Lv L</span><br />
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
2022 Feb 22;119(8)
doi: 10.1073/pnas.2114851119.
<span class="bold">PMID: </span><a href="/pubmed/35181605" target="_blank">35181605</a><a href="/pmc/articles/PMC8872783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25270028">Genetic defects in dolichol metabolism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buczkowska A,
Swiezewska E,
Lefeber DJ</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2015 Jan;38(1):157-69.
Epub 2014 Oct 1
doi: 10.1007/s10545-014-9760-1.
<span class="bold">PMID: </span><a href="/pubmed/25270028" target="_blank">25270028</a><a href="/pmc/articles/PMC4281381" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19539754">Abnormal glycosylation of dystroglycan in human genetic disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hewitt JE</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta</span>
2009 Sep;1792(9):853-61.
Epub 2009 Jun 17
doi: 10.1016/j.bbadis.2009.06.003.
<span class="bold">PMID: </span><a href="/pubmed/19539754" target="_blank">19539754</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (70)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39098853">Glycosylation: mechanisms, biological functions and clinical implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He M,
Zhou X,
Wang X</span><br />
<span class="medgenPMjournal">Signal Transduct Target Ther</span>
2024 Aug 5;9(1):194.
doi: 10.1038/s41392-024-01886-1.
<span class="bold">PMID: </span><a href="/pubmed/39098853" target="_blank">39098853</a><a href="/pmc/articles/PMC11298558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36000484">Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donoghue SE,
Heath O,
Pitt J,
Hong KM,
Fuller M,
Smith J</span><br />
<span class="medgenPMjournal">Clin Chem Lab Med</span>
2022 Oct 26;60(11):1855-1858.
Epub 2022 Aug 25
doi: 10.1515/cclm-2022-0473.
<span class="bold">PMID: </span><a href="/pubmed/36000484" target="_blank">36000484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34743203">Glycoprotein PTGDS promotes tumorigenesis of diffuse large B-cell lymphoma by MYH9-mediated regulation of Wnt-β-catenin-STAT3 signaling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
Ren S,
Cai Y,
Liu J,
Han Y,
Zhao Y,
Yang J,
Zhou X,
Wang X</span><br />
<span class="medgenPMjournal">Cell Death Differ</span>
2022 Mar;29(3):642-656.
Epub 2021 Nov 6
doi: 10.1038/s41418-021-00880-2.
<span class="bold">PMID: </span><a href="/pubmed/34743203" target="_blank">34743203</a><a href="/pmc/articles/PMC8901925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24972800">Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Socha P,
Vajro P,
Lefeber D,
Adamowicz M,
Tanner S</span><br />
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
2014 Sep;38(4):403-6.
Epub 2014 Jun 25
doi: 10.1016/j.clinre.2014.04.012.
<span class="bold">PMID: </span><a href="/pubmed/24972800" target="_blank">24972800</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21431621">Metabolic cutis laxa syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamed M,
Kouwenberg D,
Gardeitchik T,
Kornak U,
Wevers RA,
Morava E</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2011 Aug;34(4):907-16.
Epub 2011 Mar 23
doi: 10.1007/s10545-011-9305-9.
<span class="bold">PMID: </span><a href="/pubmed/21431621" target="_blank">21431621</a><a href="/pmc/articles/PMC3137780" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (97)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38575942">Development and validation of a model and nomogram for breast cancer diagnosis based on quantitative analysis of serum disease-specific haptoglobin N-glycosylation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Li L,
Xu Y,
Lai Z,
Li D,
Sun Q,
Li Z,
Zhou Y</span><br />
<span class="medgenPMjournal">J Transl Med</span>
2024 Apr 4;22(1):331.
doi: 10.1186/s12967-024-05039-4.
<span class="bold">PMID: </span><a href="/pubmed/38575942" target="_blank">38575942</a><a href="/pmc/articles/PMC10993522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37536407">Therapeutic potential of lectins in the treatment of breast cancer: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bektas S,
Kaptan E</span><br />
<span class="medgenPMjournal">Int J Biol Macromol</span>
2023 Sep 30;249:126073.
Epub 2023 Aug 2
doi: 10.1016/j.ijbiomac.2023.126073.
<span class="bold">PMID: </span><a href="/pubmed/37536407" target="_blank">37536407</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35422047">CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tokuoka H,
Imae R,
Nakashima H,
Manya H,
Masuda C,
Hoshino S,
Kobayashi K,
Lefeber DJ,
Matsumoto R,
Okada T,
Endo T,
Kanagawa M,
Toda T</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2022 Apr 14;13(1):1847.
doi: 10.1038/s41467-022-29473-4.
<span class="bold">PMID: </span><a href="/pubmed/35422047" target="_blank">35422047</a><a href="/pmc/articles/PMC9010444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32151681">Advances in molecular mechanisms of drugs affecting abnormal glycosylation and metastasis of breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Ma L,
Lin J,
Cao B,
Qu D,
Luo C,
Huang W,
Han L,
Xu H,
Wu Z,
Xu R,
Zhang D</span><br />
<span class="medgenPMjournal">Pharmacol Res</span>
2020 May;155:104738.
Epub 2020 Mar 7
doi: 10.1016/j.phrs.2020.104738.
<span class="bold">PMID: </span><a href="/pubmed/32151681" target="_blank">32151681</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26657044">Exploring Glycan Markers for Immunotyping and Precision-targeting of Breast Circulating Tumor Cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang D,
Liu X,
Hsieh B,
Bruce R,
Somlo G,
Huang J,
Sambucetti L</span><br />
<span class="medgenPMjournal">Arch Med Res</span>
2015 Nov;46(8):642-50.
Epub 2015 Dec 1
doi: 10.1016/j.arcmed.2015.11.007.
<span class="bold">PMID: </span><a href="/pubmed/26657044" target="_blank">26657044</a><a href="/pmc/articles/PMC4729604" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37381011">ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Man D,
Jiang Y,
Zhang D,
Wu J,
Ding B,
Liu H,
Xu G,
Lu J,
Ru J,
Tong R,
Zheng S,
Chen D,
Wu J</span><br />
<span class="medgenPMjournal">J Transl Med</span>
2023 Jun 29;21(1):420.
doi: 10.1186/s12967-023-04191-7.
<span class="bold">PMID: </span><a href="/pubmed/37381011" target="_blank">37381011</a><a href="/pmc/articles/PMC10308692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35952983">Protein glycosylation in urine as a biomarker of diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xu M,
Yang A,
Xia J,
Jiang J,
Liu CF,
Ye Z,
Ma J,
Yang S</span><br />
<span class="medgenPMjournal">Transl Res</span>
2023 Mar;253:95-107.
Epub 2022 Aug 8
doi: 10.1016/j.trsl.2022.08.001.
<span class="bold">PMID: </span><a href="/pubmed/35952983" target="_blank">35952983</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35181605">D-mannose facilitates immunotherapy and radiotherapy of triple-negative breast cancer via degradation of PD-L1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang R,
Yang Y,
Dong W,
Lin M,
He J,
Zhang X,
Tian T,
Yang Y,
Chen K,
Lei QY,
Zhang S,
Xu Y,
Lv L</span><br />
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
2022 Feb 22;119(8)
doi: 10.1073/pnas.2114851119.
<span class="bold">PMID: </span><a href="/pubmed/35181605" target="_blank">35181605</a><a href="/pmc/articles/PMC8872783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34743203">Glycoprotein PTGDS promotes tumorigenesis of diffuse large B-cell lymphoma by MYH9-mediated regulation of Wnt-β-catenin-STAT3 signaling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
Ren S,
Cai Y,
Liu J,
Han Y,
Zhao Y,
Yang J,
Zhou X,
Wang X</span><br />
<span class="medgenPMjournal">Cell Death Differ</span>
2022 Mar;29(3):642-656.
Epub 2021 Nov 6
doi: 10.1038/s41418-021-00880-2.
<span class="bold">PMID: </span><a href="/pubmed/34743203" target="_blank">34743203</a><a href="/pmc/articles/PMC8901925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32151681">Advances in molecular mechanisms of drugs affecting abnormal glycosylation and metastasis of breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Ma L,
Lin J,
Cao B,
Qu D,
Luo C,
Huang W,
Han L,
Xu H,
Wu Z,
Xu R,
Zhang D</span><br />
<span class="medgenPMjournal">Pharmacol Res</span>
2020 May;155:104738.
Epub 2020 Mar 7
doi: 10.1016/j.phrs.2020.104738.
<span class="bold">PMID: </span><a href="/pubmed/32151681" target="_blank">32151681</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38472355">ALKBH1 promotes HIF-1α-mediated glycolysis by inhibiting N-glycosylation of LAMP2A.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
Li M,
Lin M,
Liu X,
Guo H,
Tan J,
Hu L,
Li J,
Zhou Q</span><br />
<span class="medgenPMjournal">Cell Mol Life Sci</span>
2024 Mar 12;81(1):130.
doi: 10.1007/s00018-024-05152-z.
<span class="bold">PMID: </span><a href="/pubmed/38472355" target="_blank">38472355</a><a href="/pmc/articles/PMC10933178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36000484">Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Donoghue SE,
Heath O,
Pitt J,
Hong KM,
Fuller M,
Smith J</span><br />
<span class="medgenPMjournal">Clin Chem Lab Med</span>
2022 Oct 26;60(11):1855-1858.
Epub 2022 Aug 25
doi: 10.1515/cclm-2022-0473.
<span class="bold">PMID: </span><a href="/pubmed/36000484" target="_blank">36000484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29864905">How glycosylation aids tumor angiogenesis: An updated review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng WK,
Oon CE</span><br />
<span class="medgenPMjournal">Biomed Pharmacother</span>
2018 Jul;103:1246-1252.
Epub 2018 May 7
doi: 10.1016/j.biopha.2018.04.119.
<span class="bold">PMID: </span><a href="/pubmed/29864905" target="_blank">29864905</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29353432">Post-translational modifications in tumor biomarkers: the next challenge for aptamers?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Díaz-Fernández A,
Miranda-Castro R,
de-Los-Santos-Álvarez N,
Lobo-Castañón MJ</span><br />
<span class="medgenPMjournal">Anal Bioanal Chem</span>
2018 Mar;410(8):2059-2065.
Epub 2018 Jan 20
doi: 10.1007/s00216-018-0861-9.
<span class="bold">PMID: </span><a href="/pubmed/29353432" target="_blank">29353432</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3358797">Abnormal glycosylation of serum IgG from patients with chronic inflammatory diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tomana M,
Schrohenloher RE,
Koopman WJ,
Alarcón GS,
Paul WA</span><br />
<span class="medgenPMjournal">Arthritis Rheum</span>
1988 Mar;31(3):333-8.
doi: 10.1002/art.1780310304.
<span class="bold">PMID: </span><a href="/pubmed/3358797" target="_blank">3358797</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (57)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32151681">Advances in molecular mechanisms of drugs affecting abnormal glycosylation and metastasis of breast cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Ma L,
Lin J,
Cao B,
Qu D,
Luo C,
Huang W,
Han L,
Xu H,
Wu Z,
Xu R,
Zhang D</span><br />
<span class="medgenPMjournal">Pharmacol Res</span>
2020 May;155:104738.
Epub 2020 Mar 7
doi: 10.1016/j.phrs.2020.104738.
<span class="bold">PMID: </span><a href="/pubmed/32151681" target="_blank">32151681</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20glycosylation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4022946%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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