Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
about
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyShort-chain acyl-coenzyme A dehydrogenase deficiencyFollow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experienceNewborn screening.Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningClinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Newborn screening: the genomic challenge.Mitochondrial proteomics--a tool for the study of metabolic disorders.Inborn errors of metabolism and expanded newborn screening: review and update.Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.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.Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
P2860
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P2860
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@ast
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@en
Short-chain acyl-CoA dehydrogenase
@nl
type
label
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@ast
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@en
Short-chain acyl-CoA dehydrogenase
@nl
prefLabel
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@ast
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@en
Short-chain acyl-CoA dehydrogenase
@nl
P2093
P2860
P1476
Short-chain acyl-CoA dehydroge ...... screening or clinical symptoms
@en
P2093
N Gregersen
S E Waisbren
P2860
P356
10.1016/J.YMGME.2008.06.002
P577
2008-08-03T00:00:00Z