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11 Result(s)

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  1. No Access

    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...

    K. Sukegawa-Hayasaka, Z. Kato, H. Nakamura… in Journal of Inherited Metabolic Disease (2006)

  2. No Access

    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.

    L. Mrázová, T. Fukao, K. Hálovd, E. Gregová… in Journal of Inherited Metabolic Disease (2005)

  3. No Access

    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...

    N. Longo, T. Fukao, R. Singh, M. Pasquali… in Journal of Inherited Metabolic Disease (2004)

  4. No Access

    Article

    Construction of a comparative RFLP map of Echinochloa crus-galli toward QTL analysis of flooding tolerance

    To analyze quantitative trait loci (QTLs) affecting flooding tolerance and other physiological and morphological traits in Echinochloa crus-galli, a restriction fragment length polymorphism (RFLP) map was constru...

    T. Fukao, A. H. Paterson, M. A. Hussey, Y. Yamasue… in Theoretical and Applied Genetics (2004)

  5. No Access

    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...

    T. Fukao, G.-X. Zhang, N. Sakura, T. Kubo… in Journal of Inherited Metabolic Disease (2003)

  6. No Access

    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 ...

    G. T. Berry, T. Fukao, G. A. Mitchell, A. Mazur… in Journal of Inherited Metabolic Disease (2001)

  7. No Access

    Article

    Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy

    A. C. Sewell, J. Herwig, I. Wiegratz, W. Lehnert… in Journal of Inherited Metabolic Disease (1998)

  8. No Access

    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 ...

    K. Isogai, K. Sukegawa, S. Tomatsu, T. Fukao… in Journal of Inherited Metabolic Disease (1998)

  9. No Access

    Article

    A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

    H. Sakazaki, K. Hirayama, S. Murakami… in Journal of Inherited Metabolic Disease (1995)

  10. No Access

    Article

    Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase

    T. Fukao, S. Yamaguchi, A. Wakazono, H. Okamoto… in Journal of Inherited Metabolic Disease (1992)

  11. No Access

    Article

    Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency

    T. Fukao, S. Yamaguchi, H. Nagasawa, M. Kano… in Journal of Inherited Metabolic Disease (1990)