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Fatty Acid Beta-Oxidation Disorders: A Brief Review

BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and...

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Autor principal: Vishwanath, Vijay A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934411/
https://www.ncbi.nlm.nih.gov/pubmed/27536022
http://dx.doi.org/10.1159/000443556
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author Vishwanath, Vijay A.
author_facet Vishwanath, Vijay A.
author_sort Vishwanath, Vijay A.
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description BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders. KEY MESSAGES: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs.
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spelling pubmed-49344112016-08-17 Fatty Acid Beta-Oxidation Disorders: A Brief Review Vishwanath, Vijay A. Ann Neurosci Mini Review BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders. KEY MESSAGES: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs. S. Karger AG 2016-03 2016-03-11 /pmc/articles/PMC4934411/ /pubmed/27536022 http://dx.doi.org/10.1159/000443556 Text en Copyright © 2016 by S. Karger AG, Basel
spellingShingle Mini Review
Vishwanath, Vijay A.
Fatty Acid Beta-Oxidation Disorders: A Brief Review
title Fatty Acid Beta-Oxidation Disorders: A Brief Review
title_full Fatty Acid Beta-Oxidation Disorders: A Brief Review
title_fullStr Fatty Acid Beta-Oxidation Disorders: A Brief Review
title_full_unstemmed Fatty Acid Beta-Oxidation Disorders: A Brief Review
title_short Fatty Acid Beta-Oxidation Disorders: A Brief Review
title_sort fatty acid beta-oxidation disorders: a brief review
topic Mini Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934411/
https://www.ncbi.nlm.nih.gov/pubmed/27536022
http://dx.doi.org/10.1159/000443556
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