S. Miyabayashi

发表

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer

Y. Matsubara, H. Mikami, K. Hayasaka, 1990, Journal of Inherited Metabolic Disease.

Detection of Human Coronavirus-NL63 in Children in Japan

S. Miyabayashi, A. Suzuki, H. Nishimura, 2005, The Pediatric infectious disease journal.

Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNALEU(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

S. Nagataki, Y. Hinokio, K. Abe, 1994, Diabetologia.

The GSTP1 Gene Is a Susceptibility Gene for Childhood Asthma and the GSTM1 Gene Is a Modifier of the GSTP1 Gene

A. Hata, T. Shirakawa, Y. Matsubara, 2007, International Archives of Allergy and Immunology.

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: A long-term follow-up study

M. Kikuchi, Katsuya Yamamoto, K. Haginoya, 2009, Journal of the Neurological Sciences.

Ef fi cacy of idebenone for respiratory failure in a patient with Leigh syndrome : A long-term follow-up study

M. Kikuchi, Katsuya Yamamoto, K. Haginoya, 2009 .

Linkage and association of childhood asthma with the chromosome 12 genes

T. Shirakawa, Y. Matsubara, M. Tamari, 2004, Journal of Human Genetics.

Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography

Kenji Yamada, K. Narisawa, S. Miyabayashi, 2004, European Journal of Nuclear Medicine.

Regional cerebral metabolic rate for glucose in subacute sclerosing panencephalitis

M. Ito, S. Miyabayashi, K. Tada, 1987, European Journal of Pediatrics.

Regional cerebral metabolic rate for glucose and cerebrospinal fluid monoamine metabolites in subacute sclerosing panencephalitis.

M. Ito, S. Miyabayashi, K. Tada, 1987, The Tohoku journal of experimental medicine.

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

S. Miyabayashi, Y. Taguma, T. Furuta, 2001, Kidney international.

Adult Leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure

S. Miyabayashi, T. Yasui, Y. Kageyama, 1999, European journal of neurology.

Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction. Functional integrity of mitochondrial DNA from aged subjects.

Y. Kagawa, H. Yonekawa, J. Hayashi, 1994, The Journal of biological chemistry.

Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease

K. Narisawa, S. Miyabayashi, K. Iinuma, 1995, Journal of Inherited Metabolic Disease.

Genetic heterogeneity of propionic acidemia: Analysis of 15 Japanese patients

K. Narisawa, S. Miyabayashi, K. Tada, 2005, Human Genetics.

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

K. Haginoya, S. Miyabayashi, A. Ohtake, 2011, Pediatrics International.

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

Xia Li, H. Kondo, Y. Suzuki, 1996, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus.

Y. Hinokio, M. Hirai, S. Miyabayashi, 1998, The Journal of clinical endocrinology and metabolism.

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone

J. Miyazaki, S. Ishii, S. Miyabayashi, 2008, Human mutation.

[Clinical and biochemical approach to mitochondrial cytopathy--pyruvate dehydrogenase complex deficiency].

K. Narisawa, S. Miyabayashi, 1987, No to hattatsu = Brain and development.

Normal pituitary function in a Japanese patient with Barth syndrome

S. Miyabayashi, S. Yamaguchi, K. Iinuma, 2001, European Journal of Pediatrics.

Immunochemical study in three patients with cytochromec oxidase deficiency presenting leigh's encephalomyelopathy

T. Ozawa, K. Narisawa, S. Miyabayashi, 1987, Journal of Inherited Metabolic Disease.

Mutation of the 97-197-197-1subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity

F. Endo, A. Kitano, I. Matsuda, 1989, Journal of Inherited Metabolic Disease.

Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency

F. Endo, A. Kitano, I. Akaboshi, 1988, Journal of Inherited Metabolic Disease.

Cloning of a defective gene encoding the pyruvate dehydrogenase E1α subunit from a patient with its deficiency

Y. Kagawa, H. Endo, S. Ohta, 1989, Journal of Inherited Metabolic Disease.

Treatment of lactic acidosis: effects of dichloroacetate on lactate and pyruvate levels in the cerebrospinal fluid

H. Kodama, S. Miyabayashi, H. Shimoizumi, 1986, European Journal of Pediatrics.

Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy

S. Miyabayashi, K. Tada, K. Iinuma, 2004, Acta Neuropathologica.

Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.

K. Haginoya, S. Miyabayashi, K. Tada, 1992, Pediatric neurology.

Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency

A. Kikuchi, I. Nonaka, S. Miyabayashi, 1988, Brain and Development.

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria.

Y. Akao, K. Ozawa, M. Naoi, 2002, Journal of biomedical science.

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Kazutoshi Takahashi, Xia Li, R. Sakuta, 1995, Biochimica et biophysica acta.

Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.

S. Miyabayashi, K. Tada, M. Ohtake, 1982, The Tohoku journal of experimental medicine.

Identification of Inheritance Modes of Mitochondrial Diseases by Introduction of Pure Nuclei from mtDNA-less HeLa Cells to Patient-derived Fibroblasts*

J. Hayashi, Kimiko Inoue, S. Miyabayashi, 1997, The Journal of Biological Chemistry.

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy

Kazutoshi Takahashi, Y. Matsubara, K. Narisawa, 1998, Journal of Human Genetics.

Two siblings with cytochromec oxidase deficiency

K. Narisawa, S. Miyabayashi, K. Tada, 1983, Journal of Inherited Metabolic Disease.

Extensive Defects of Mitochondrial Electron-Transfer Chain in Muscular Cytochrome c Oxidase Deficiency

Hiroshi Suzuki, Y. Shimomura, T. Ozawa, 1988, Pediatric Research.

Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy

S. Morinaga, K. Narisawa, S. Miyabayashi, 1984, Brain and Development.

Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis

K. Narisawa, S. Miyabayashi, K. Tada, 1982, European Journal of Pediatrics.

Two siblings with cytochrome c oxidase deficiency.

K. Narisawa, S. Miyabayashi, K. Tada, 1983, Journal of inherited metabolic disease.

A four-nucleotide insertion at the E1α gene in a patient with pyruvate dehydrogenase deficiency

H. Endo, K. Narisawa, S. Miyabayashi, 1991, Journal of Inherited Metabolic Disease.

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.

H. Saito, S. Miyabayashi, S. Kunishima, 2004, Journal of pediatric hematology/oncology.

Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy

K. Narisawa, K. Haginoya, S. Miyabayashi, 1989, Journal of Inherited Metabolic Disease.

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy

K. Narisawa, S. Miyabayashi, K. Tada, 1985, European Journal of Pediatrics.

Complete repopulation of mouse mitochondrial DNA-less cells with rat mitochondrial DNA restores mitochondrial translation but not mitochondrial respiratory function.

H. Yonekawa, J. Hayashi, H. Shitara, 2000, Genetics.

Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.

S. Morinaga, S. Miyabayashi, K. Tada, 1982, The Tohoku journal of experimental medicine.

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Kazutoshi Takahashi, M. Ogasawara, Y. Matsubara, 2000, American journal of medical genetics.

Influence of ageing on onset of mitochondrial disease

J. Hayashi, S. Miyabayashi, K. Tada, 1994, Journal of Inherited Metabolic Disease.

A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

S. Miyabayashi, K. Iinuma, O. Sakamoto, 2001, Human Genetics.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Y. Matsubara, Y. Suzuki, K. Narisawa, 2000, American journal of medical genetics.

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.

R. Sakuta, J. Hayashi, S. Ohta, 1993, Biochemical and biophysical research communications.

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients*

M. Kikuchi, M. Ogasawara, Y. Matsubara, 1999, Journal of Human Genetics.

Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.

A. Yajima, K. Okamura, S. Miyabayashi, 1994, American journal of perinatology.

Clinical and biochemical phenotype of the MELAS mutation

J. Hayashi, S. Miyabayashi, K. Tada, 1993, Journal of Inherited Metabolic Disease.

[Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy].

A. Yajima, K. Okamura, S. Miyabayashi, 1991, Nihon Sanka Fujinka Gakkai zasshi.

Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts

H. Endo, S. Miyabayashi, K. Tada, 1992, Journal of Inherited Metabolic Disease.

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

C. Roe, Y. Matsubara, K. Narisawa, 1990, Biochemical and biophysical research communications.

Gene Therapy for Mitochondrial Disease by Delivering Restriction Endonuclease SmaI into Mitochondria

Y. Akao, K. Ozawa, M. Naoi, 2002, Journal of Biomedical Science.

Pyruvate carboxylase activity in lymphoblasts

K. Narisawa, S. Miyabayashi, K. Tada, 1982, Journal of Inherited Metabolic Disease.

[Fumarase deficiency].

S. Miyabayashi, 1998, Ryoikibetsu shokogun shirizu.

Mosaicism of mitochondria in mitochondrial myopathy: an electronmicroscopic analysis of cytochrome c oxidase

K. Haginoya, S. Miyabayashi, K. Tada, 2004, Acta Neuropathologica.

Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.

Y. Kagawa, J. Hayashi, S. Ohta, 1994, The Journal of biological chemistry.

Lack of Subunit II of Cytochrome c Oxidase in a Patient with Mitochondrial Myopathy

T. Ozawa, S. Miyabayashi, K. Tada, 1986 .

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency

Y. Matsubara, K. Narisawa, S. Miyabayashi, 1990, The Lancet.

Ocular findings in childhood lactic acidosis.

K. Narisawa, S. Miyabayashi, K. Tada, 1986, Archives of ophthalmology.

Secondary amyloidosis in glycogen storage disease type Ib

M. Kikuchi, K. Narisawa, K. Haginoya, 1990, European Journal of Pediatrics.

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Kazutoshi Takahashi, Y. Matsubara, K. Narisawa, 2000, American journal of medical genetics.

Chronic Pancreatitis in Muscular Cytochrome c Oxidase Deficiency

S. Miyabayashi, K. Tada, H. Nakagawa, 1990, Journal of pediatric gastroenterology and nutrition.