Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
about
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.Sirtuin activation as a therapeutic approach against inborn errors of metabolism.SILEC: a protocol for generating and using isotopically labeled coenzyme A mass spectrometry standardsCompound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.Extended newborn screening: an update for the general paediatrician.Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.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).Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.Stable isotope labeling by essential nutrients in cell culture for preparation of labeled coenzyme A and its thioestersNovel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.Metabolic etiologies in West syndrome.Impact of pregnancy on inborn errors of metabolism
P2860
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P2860
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@ast
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@en
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@nl
type
label
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@ast
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@en
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@nl
prefLabel
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@ast
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@en
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@nl
P2860
P921
P1476
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
@en
P2093
Bianca T van Maldegem
Frits A Wijburg
P2860
P2888
P304
P356
10.1007/S10545-010-9080-Z
P577
2010-04-29T00:00:00Z
2010-10-01T00:00:00Z
P5875
P6179
1005426266