about
Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiencyDemonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolitesFood intolerance in humansIdentification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiencyIdentification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.Inborn errors of metabolism: principles and their applications.First report of 3-oxothiolase deficiency in iranDefect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.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.Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
P2860
Q28118653-402C72FB-7B08-4D9D-81CC-2781838EF624Q28335742-AF31439E-1BE3-45BD-8141-942A175C9482Q34052255-FC807CBF-C7D1-4085-B2F3-AFA0FD3431BEQ34131561-4264B6FF-0289-4162-B10E-6370D5A4ACF6Q35597558-168D7B91-2D9B-4444-AC1C-43A4E26F09E8Q35926081-880D1C65-E4AB-4E7E-A22E-2B38589B3BD7Q38937310-EA396956-1129-40D9-9A5F-63920C16C2B2Q41016822-E00A5011-91E7-4A9F-8F77-63B34087F2F1Q42070863-4304C750-42D1-4158-86D4-BF425FF1F5E1Q42293519-022846D8-4BCE-43D7-8EBC-E09ED506D2D0Q53153360-1B0454C3-934B-478E-9BFA-53C9D8CEA365
P2860
description
1971 nî lūn-bûn
@nan
1971 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1971年の論文
@ja
1971年論文
@yue
1971年論文
@zh-hant
1971年論文
@zh-hk
1971年論文
@zh-mo
1971年論文
@zh-tw
1971年论文
@wuu
name
A "new" disorder of isoleucine catabolism
@ast
A "new" disorder of isoleucine catabolism
@en
A "new" disorder of isoleucine catabolism
@nl
type
label
A "new" disorder of isoleucine catabolism
@ast
A "new" disorder of isoleucine catabolism
@en
A "new" disorder of isoleucine catabolism
@nl
prefLabel
A "new" disorder of isoleucine catabolism
@ast
A "new" disorder of isoleucine catabolism
@en
A "new" disorder of isoleucine catabolism
@nl
P2093
P1433
P1476
A "new" disorder of isoleucine catabolism
@en
P2093
P304
P407
P577
1971-12-11T00:00:00Z