A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
about
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationMaternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant alleleTwo alpha subunit donor splice site mutations cause human trifunctional protein deficiencyFatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 yearsBiochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
P2860
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@ast
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@en
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@nl
type
label
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@ast
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@en
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@nl
prefLabel
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@ast
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@en
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@nl
P2093
P2860
P356
P1476
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
@en
P2093
A W Strauss
B deMartinville
E M Zimmerman
J C Brackett
P2860
P304
P356
10.1172/JCI117486
P407
P577
1994-10-01T00:00:00Z