Pages that link to "Q69373457"

The following pages link to Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency (Q69373457):

Displaying 16 items.

• 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 deficiency (Q28118653) (← links)
• Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families (Q28118702) (← links)
• Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene (Q28301367) (← links)
• Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency (Q28327381) (← links)
• Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency (Q34131561) (← links)
• 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 (Q35597558) (← links)
• CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1. (Q36102786) (← links)
• Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism (Q40904115) (← links)
• Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency (Q41396233) (← links)
• Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase (Q41649744) (← links)
• Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency (Q41668800) (← links)
• Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency (Q41756190) (← links)
• A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency (Q42010183) (← links)
• Crystallographic studies of 3-ketoacylCoA thiolase from yeast Saccharomyces cerevisiae (Q45257363) (← links)
• Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency (Q67525717) (← links)
• Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients (Q72185531) (← links)