Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
about
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorderMolecular 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 deficiencyIdentification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiencyKetone body metabolism and its defects.Identification 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.Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.Inborn errors of ketone body utilization.Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.
P2860
Q24677416-FEBB9DB8-870C-4EF3-B848-7A5452780DE4Q28118653-53583F32-A9FA-4E86-BC46-A0E9BC9D5D81Q34131561-C48C9F23-BC82-4005-BC8C-327F28A86A31Q34413875-0A8A5555-CEA7-4A10-9C7B-7138E22E1D3AQ35597558-95A596FB-00F4-4F5F-989A-DF0327B17878Q40335875-F3CF70E6-2173-4926-A653-4E28419CBE34Q41195031-24891DDB-35AB-4EFF-9476-E5179BE22A98Q42546758-31BAC8F4-CA8E-469C-8138-BAD1FEF9B713Q51309965-BC257D2B-E11B-463E-965A-46150E89E4BCQ51693814-10F20AAB-1910-4B67-913D-F70C95FDC0F7
P2860
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Defect in biosynthesis of mito ...... ith 3-ketothiolase deficiency.
@en
type
label
Defect in biosynthesis of mito ...... ith 3-ketothiolase deficiency.
@en
prefLabel
Defect in biosynthesis of mito ...... ith 3-ketothiolase deficiency.
@en
P2093
P2860
P356
P1476
Defect in biosynthesis of mito ...... ith 3-ketothiolase deficiency.
@en
P2093
P2860
P304
P356
10.1172/JCI113388
P407
P577
1988-03-01T00:00:00Z