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Article
Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia
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Article
Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes
Glucose-stimulated insulin secretion is defective in patients with type 2 diabetes. We sought to acquire new information about enzymes of glucose metabolism, with an emphasis on mitochondrial enzymes, by compa...
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Article
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis
Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identif...
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Article
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.
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Article
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation
Summary: SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. Here we report patient GS15, homozygous for a novel R217X mutation, who had the first apparent ketoacidotic crisis a...
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Article
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism affecting isoleucine and ketone bodies in the catabolic process. Mutation analysis and expression analysis of mutant cDNA...
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Article
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization, characterized by intermittent ketoacidotic crises and persistent ketosis. The diagnosis was suspected in ...
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Article
Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy
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Article
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five ...
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Article
A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency
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Article
Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase
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Article
Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency