A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

Item
http://www.wikidata.org/entity/Q30051059
Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Ketone body metabolism and its defects.Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.Inborn errors of ketogenesis and ketone body utilization.Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.Evidence that 2-methylacetoacetate induces oxidative stress in rat brain.Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.MRI of pallidal involvement in Beta-ketothiolase deficiency.Inborn errors of ketone body utilization.Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
P2860

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

Item
http://www.wikidata.org/entity/Q30051059
description
1971 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique The Lancet
@fr
artikull shkencor
@sq
artículu científicu espublizáu en 1971
@ast
im Dezember 1971 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: December 1971)
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 1971
@uk
مقالة علمية (نشرت في ديسمبر 1971)
@ar
name
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@ast
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@en
type
label
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@ast
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@en
prefLabel
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@ast
A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@en
P1433
P1476
P2093
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A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
@en
P2093
P304
P31
P356
10.1016/S0140-6736(71)90605-2
P407
P433
P478
P577