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<!--
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UID=395207
|
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ConceptID=C1859241
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Elevated circulating long chain fatty acid concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395207</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) Click for more information.">C1859241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elevated long chain fatty acids; Increased serum long-chain fatty acids</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003455">HP:0003455</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<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">Increased concentration of long-chain fatty acids in the blood circulation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_118">
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<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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Elevated circulating long chain fatty acid concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892402" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipid concentration">Abnormal circulating lipid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892372" ref="tree=MeSH" title="MedGen record for Abnormal circulating fatty-acid concentration">Abnormal circulating fatty-acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684802" ref="tree=MeSH" title="MedGen record for Abnormal circulating long-chain fatty-acid concentration">Abnormal circulating long-chain fatty-acid concentration</a></span><ul><li><span class="matched_ds">Elevated circulating long chain fatty acid concentration</span><ul><li><span class="TLline"><a href="/medgen/1705888" ref="tree=MeSH" title="MedGen record for Increased circulating mead acid level">Increased circulating mead acid level</a></span></li><li><span class="TLline"><a href="/medgen/1706412" ref="tree=MeSH" title="MedGen record for Increased circulating myristoleate level">Increased circulating myristoleate level</a></span></li><li><span class="TLline"><a href="/medgen/1702553" ref="tree=MeSH" title="MedGen record for Increased circulating octadecanoate level">Increased circulating octadecanoate level</a></span></li><li><span class="TLline"><a href="/medgen/1689303" ref="tree=MeSH" title="MedGen record for Increased circulating oleate level">Increased circulating oleate level</a></span></li><li><span class="TLline"><a href="/medgen/1690083" ref="tree=MeSH" title="MedGen record for Increased circulating palmitate level">Increased circulating palmitate level</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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|
||
<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_57667"><div><strong>Adrenoleukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57667</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) Click for more information."><span class="highlight" style="background-color:">C0162309</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked adrenoleukodystrophy (X-ALD) involves the central or peripheral nervous system and the adrenal cortex. The nervous system and adrenal glands are involved independently; thus, an affected male may be diagnosed with cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency. CALD is characterized by progressive behavioral, cognitive, and neurologic deficits; onset of symptoms ranges from childhood (typically ages 4 to 8 years) to adolescence (ages 11 to 21 years) and adulthood. AMN is characterized by leg weakness, spasticity, clumsy gait, pain, and bladder and bowel dysfunction; onset is typically in the 20s and 30s. Onset of primary adrenocortical insufficiency ranges from age two years to adulthood (most commonly by age 7.5 years). Heterozygous females are not at increased risk to develop CALD, but are at increased risk to develop AMN and primary adrenocortical insufficiency with increasing age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57667">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318896"><div><strong>Carnitine palmitoyl transferase II deficiency, neonatal form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318896</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) Click for more information.">C1833518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318896">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763148"><div><strong>Peroxisome biogenesis disorder 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763148</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) Click for more information.">C3550234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763148">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763187"><div><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763187</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) Click for more information.">C3550273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766916"><div><strong>Peroxisome biogenesis disorder 12A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766916</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) Click for more information.">C3554002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648474"><div><strong>Peroxisome biogenesis disorder 1A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648474</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) Click for more information.">C4721541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648474">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenoleukodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine palmitoyl transferase II deficiency, neonatal form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 12A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 1A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2B</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/39128547">Erythrocyte Very Long-Chain Saturated Fatty Acids, Gut Microbiota-Bile Acid Axis, and Incident Coronary Artery Disease in Adults: A Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie K,
|
||
Xiao C,
|
||
Lin L,
|
||
Li F,
|
||
Hu W,
|
||
Yang Y,
|
||
Chen D,
|
||
Miao Z,
|
||
Sun TY,
|
||
Yan Y,
|
||
Zheng JS,
|
||
Chen YM</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
2024 Oct;154(10):3019-3030.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.tjnut.2024.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128547" target="_blank">39128547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33483356">Individual non-esterified fatty acids and incident atrial fibrillation late in life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini CN,
|
||
Buzkova P,
|
||
Lichtenstein AH,
|
||
Matthan NR,
|
||
Ix JH,
|
||
Siscovick DS,
|
||
Heckbert SR,
|
||
Tracy RP,
|
||
Mukamal KJ,
|
||
Djoussé L,
|
||
Kizer JR</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2021 Nov;107(22):1805-1812.
|
||
Epub 2021 Jan 22
|
||
doi: 10.1136/heartjnl-2020-317929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33483356" target="_blank">33483356</a><a href="/pmc/articles/PMC8607526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461307">Identification of Phenotypic Lipidomic Signatures in Response to Long Chain n-3 Polyunsaturated Fatty Acid Supplementation in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picklo M,
|
||
Vallée Marcotte B,
|
||
Bukowski M,
|
||
de Toro-Martín J,
|
||
Rust BM,
|
||
Guénard F,
|
||
Vohl MC</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Feb 2;10(3):e018126.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1161/JAHA.120.018126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461307" target="_blank">33461307</a><a href="/pmc/articles/PMC7955441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25307311">Long chain omega-3 polyunsaturated fatty acids in pediatric metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacifico L,
|
||
Giansanti S,
|
||
Gallozzi A,
|
||
Chiesa C</span><br />
|
||
<span class="medgenPMjournal">Mini Rev Med Chem</span>
|
||
2014;14(10):791-804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25307311" target="_blank">25307311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23519529">Macular xanthophylls and ω-3 long-chain polyunsaturated fatty acids in age-related macular degeneration: a randomized trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold C,
|
||
Winter L,
|
||
Fröhlich K,
|
||
Jentsch S,
|
||
Dawczynski J,
|
||
Jahreis G,
|
||
Böhm V</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2013 May;131(5):564-72.
|
||
doi: 10.1001/jamaophthalmol.2013.2851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23519529" target="_blank">23519529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20long%20chain%20fatty%20acid%20concentration%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32928639">Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elizondo G,
|
||
Matern D,
|
||
Vockley J,
|
||
Harding CO,
|
||
Gillingham MB</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Sep-Oct;131(1-2):90-97.
|
||
Epub 2020 Sep 6
|
||
doi: 10.1016/j.ymgme.2020.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32928639" target="_blank">32928639</a><a href="/pmc/articles/PMC8048763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12488245">Regulation of 5'AMP-activated protein kinase activity and substrate utilization in exercising human skeletal muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojtaszewski JF,
|
||
MacDonald C,
|
||
Nielsen JN,
|
||
Hellsten Y,
|
||
Hardie DG,
|
||
Kemp BE,
|
||
Kiens B,
|
||
Richter EA</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Endocrinol Metab</span>
|
||
2003 Apr;284(4):E813-22.
|
||
Epub 2002 Dec 17
|
||
doi: 10.1152/ajpendo.00436.2002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12488245" target="_blank">12488245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12669679">Effect of fatty acid chain length and thioesterification on the augmentation of expression of plasminogen activator inhibitor-1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Sobel BE,
|
||
Schneider DJ</span><br />
|
||
<span class="medgenPMjournal">Nutr Metab Cardiovasc Dis</span>
|
||
2002 Dec;12(6):325-30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12669679" target="_blank">12669679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20long%20chain%20fatty%20acid%20concentration%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 (3)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39792092">Induction of erythropoietin by dietary medium-chain triacylglycerol in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanta JM,
|
||
Lundsgaard A,
|
||
Schaufuss A,
|
||
Kleinert M,
|
||
Kiens B,
|
||
Fritzen AM</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Endocrinol Metab</span>
|
||
2025 Feb 1;328(2):E210-E216.
|
||
Epub 2025 Jan 10
|
||
doi: 10.1152/ajpendo.00415.2024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39792092" target="_blank">39792092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461307">Identification of Phenotypic Lipidomic Signatures in Response to Long Chain n-3 Polyunsaturated Fatty Acid Supplementation in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picklo M,
|
||
Vallée Marcotte B,
|
||
Bukowski M,
|
||
de Toro-Martín J,
|
||
Rust BM,
|
||
Guénard F,
|
||
Vohl MC</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Feb 2;10(3):e018126.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1161/JAHA.120.018126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461307" target="_blank">33461307</a><a href="/pmc/articles/PMC7955441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32167131">Prospective clinical trial examining the impact of genetic variation in FADS1 on the metabolism of linoleic acid- and ɣ-linolenic acid-containing botanical oils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sergeant S,
|
||
Hallmark B,
|
||
Mathias RA,
|
||
Mustin TL,
|
||
Ivester P,
|
||
Bohannon ML,
|
||
Ruczinski I,
|
||
Johnstone L,
|
||
Seeds MC,
|
||
Chilton FH</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Nutr</span>
|
||
2020 May 1;111(5):1068-1078.
|
||
doi: 10.1093/ajcn/nqaa023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32167131" target="_blank">32167131</a><a href="/pmc/articles/PMC7198310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25307311">Long chain omega-3 polyunsaturated fatty acids in pediatric metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacifico L,
|
||
Giansanti S,
|
||
Gallozzi A,
|
||
Chiesa C</span><br />
|
||
<span class="medgenPMjournal">Mini Rev Med Chem</span>
|
||
2014;14(10):791-804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25307311" target="_blank">25307311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23519529">Macular xanthophylls and ω-3 long-chain polyunsaturated fatty acids in age-related macular degeneration: a randomized trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold C,
|
||
Winter L,
|
||
Fröhlich K,
|
||
Jentsch S,
|
||
Dawczynski J,
|
||
Jahreis G,
|
||
Böhm V</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2013 May;131(5):564-72.
|
||
doi: 10.1001/jamaophthalmol.2013.2851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23519529" target="_blank">23519529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20long%20chain%20fatty%20acid%20concentration%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39128547">Erythrocyte Very Long-Chain Saturated Fatty Acids, Gut Microbiota-Bile Acid Axis, and Incident Coronary Artery Disease in Adults: A Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie K,
|
||
Xiao C,
|
||
Lin L,
|
||
Li F,
|
||
Hu W,
|
||
Yang Y,
|
||
Chen D,
|
||
Miao Z,
|
||
Sun TY,
|
||
Yan Y,
|
||
Zheng JS,
|
||
Chen YM</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
2024 Oct;154(10):3019-3030.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.tjnut.2024.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128547" target="_blank">39128547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33483356">Individual non-esterified fatty acids and incident atrial fibrillation late in life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrini CN,
|
||
Buzkova P,
|
||
Lichtenstein AH,
|
||
Matthan NR,
|
||
Ix JH,
|
||
Siscovick DS,
|
||
Heckbert SR,
|
||
Tracy RP,
|
||
Mukamal KJ,
|
||
Djoussé L,
|
||
Kizer JR</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2021 Nov;107(22):1805-1812.
|
||
Epub 2021 Jan 22
|
||
doi: 10.1136/heartjnl-2020-317929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33483356" target="_blank">33483356</a><a href="/pmc/articles/PMC8607526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33461307">Identification of Phenotypic Lipidomic Signatures in Response to Long Chain n-3 Polyunsaturated Fatty Acid Supplementation in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Picklo M,
|
||
Vallée Marcotte B,
|
||
Bukowski M,
|
||
de Toro-Martín J,
|
||
Rust BM,
|
||
Guénard F,
|
||
Vohl MC</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Feb 2;10(3):e018126.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1161/JAHA.120.018126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33461307" target="_blank">33461307</a><a href="/pmc/articles/PMC7955441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Elevated%20circulating%20long%20chain%20fatty%20acid%20concentration%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39128547">Erythrocyte Very Long-Chain Saturated Fatty Acids, Gut Microbiota-Bile Acid Axis, and Incident Coronary Artery Disease in Adults: A Prospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie K,
|
||
Xiao C,
|
||
Lin L,
|
||
Li F,
|
||
Hu W,
|
||
Yang Y,
|
||
Chen D,
|
||
Miao Z,
|
||
Sun TY,
|
||
Yan Y,
|
||
Zheng JS,
|
||
Chen YM</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
2024 Oct;154(10):3019-3030.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.tjnut.2024.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128547" target="_blank">39128547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34911556">Enhanced hepatic respiratory capacity and altered lipid metabolism support metabolic homeostasis during short-term hypoxic stress.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Brien KA,
|
||
McNally BD,
|
||
Sowton AP,
|
||
Murgia A,
|
||
Armitage J,
|
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Thomas LW,
|
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Krause FN,
|
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Maddalena LA,
|
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Francis I,
|
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Kavanagh S,
|
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Williams DP,
|
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Ashcroft M,
|
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Griffin JL,
|
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Lyon JJ,
|
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Murray AJ</span><br />
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<span class="medgenPMjournal">BMC Biol</span>
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||
2021 Dec 15;19(1):265.
|
||
doi: 10.1186/s12915-021-01192-0.
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|
||
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|
||
Bukowski M,
|
||
de Toro-Martín J,
|
||
Rust BM,
|
||
Guénard F,
|
||
Vohl MC</span><br />
|
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<span class="medgenPMjournal">J Am Heart Assoc</span>
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2021 Feb 2;10(3):e018126.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1161/JAHA.120.018126.
|
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||
Giansanti S,
|
||
Gallozzi A,
|
||
Chiesa C</span><br />
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||
<span class="medgenPMjournal">Mini Rev Med Chem</span>
|
||
2014;14(10):791-804.
|
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<span class="bold">PMID: </span><a href="/pubmed/25307311" target="_blank">25307311</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/11441128">Characterization of enzymes involved in formation of ethyl esters of long-chain fatty acids in humans.</a></div>
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|
||
Björkhem I,
|
||
Einarsson C,
|
||
Hillebrant CG,
|
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Alexson SE</span><br />
|
||
<span class="medgenPMjournal">J Lipid Res</span>
|
||
2001 Jul;42(7):1025-32.
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