Fatty Acyl-CoA Reductase 1 Deficiency

Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy,...

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Detalles Bibliográficos
Autor principal: Swisher, Charles N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Metabolic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747304/
https://www.ncbi.nlm.nih.gov/pubmed/26933529
http://dx.doi.org/10.15844/pedneurbriefs-29-1-5
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author Swisher, Charles N.
author_facet Swisher, Charles N.
author_sort Swisher, Charles N.
collection PubMed
description Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
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spelling pubmed-47473042016-03-01 Fatty Acyl-CoA Reductase 1 Deficiency Swisher, Charles N. Pediatr Neurol Briefs Metabolic Disorders Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. Pediatric Neurology Briefs Publishers 2015-01 2015-01-01 /pmc/articles/PMC4747304/ /pubmed/26933529 http://dx.doi.org/10.15844/pedneurbriefs-29-1-5 Text en Copyright: © 2015 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Metabolic Disorders
Swisher, Charles N.
Fatty Acyl-CoA Reductase 1 Deficiency
title Fatty Acyl-CoA Reductase 1 Deficiency
title_full Fatty Acyl-CoA Reductase 1 Deficiency
title_fullStr Fatty Acyl-CoA Reductase 1 Deficiency
title_full_unstemmed Fatty Acyl-CoA Reductase 1 Deficiency
title_short Fatty Acyl-CoA Reductase 1 Deficiency
title_sort fatty acyl-coa reductase 1 deficiency
topic Metabolic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747304/
https://www.ncbi.nlm.nih.gov/pubmed/26933529
http://dx.doi.org/10.15844/pedneurbriefs-29-1-5
work_keys_str_mv AT swishercharlesn fattyacylcoareductase1deficiency

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