Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene
about
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.Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.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.Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.MRI of pallidal involvement in Beta-ketothiolase deficiency.Delayed-onset dystonia associated with 3-oxothiolase deficiency.
P2860
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P2860
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene
description
1995 nî lūn-bûn
@nan
1995 թուականին հրատարակուած գիտական յօդուած
@hyw
1995 թվականին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@ast
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@en
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@nl
type
label
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@ast
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@en
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@nl
prefLabel
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@ast
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@en
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@nl
P2093
P356
P1433
P1476
Molecular basis of beta-ketoth ...... cetyl-coenzyme A thiolase gene
@en
P2093
P2860
P304
P356
10.1002/HUMU.1380050203
P407
P577
1995-01-01T00:00:00Z