Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

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http://www.wikidata.org/entity/Q28259592
Short-chain acyl-coenzyme A dehydrogenase deficiencyVulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidantsFollow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experienceBiochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Disease variants in genomes of 44 centenarians.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsA rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case reportMitochondrial deficiency in Cockayne syndrome.Mitochondrial proteomics--a tool for the study of metabolic disorders.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.Familial distal monosomy 5p15.3-pter with trisomy 12q24.2-qter resulting in neurodevelopmental delay and dysmorphic features.Ethylmalonic acid induces permeability transition in isolated brain mitochondria.Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.Neurochemical evidence that lysine inhibits synaptic Na+,K+-ATPase activity and provokes oxidative damage in striatum of young rats in vivo.
P2860

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Item
http://www.wikidata.org/entity/Q28259592
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
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2008年の論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年论文
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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label
Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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Short-chain acyl-CoA dehydroge ...... als of Ashkenazi Jewish origin
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10.1016/J.YMGME.2007.09.021
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