Miyabayashi S - Search Results

1

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

Suzuki Y, Aoki Y, Sakamoto O, Li X, Miyabayashi S, Kazuta Y, Kondo H, Narisawa K. Suzuki Y, et al. Among authors: miyabayashi s. Clin Chim Acta. 1996 Jul 15;251(1):41-52. doi: 10.1016/0009-8981(96)06291-2. Clin Chim Acta. 1996. PMID: 8814349

2

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

Aoki Y, Suzuki Y, Sakamoto O, Li X, Takahashi K, Ohtake A, Sakuta R, Ohura T, Miyabayashi S, Narisawa K. Aoki Y, et al. Among authors: miyabayashi s. Biochim Biophys Acta. 1995 Dec 12;1272(3):168-74. doi: 10.1016/0925-4439(95)00082-8. Biochim Biophys Acta. 1995. PMID: 8541348 Free article.

3

Thiamine responsive pyruvate dehydrogenase deficiency.

Narisawa K, Endo H, Miyabayashi S, Tada K. Narisawa K, et al. Among authors: miyabayashi s. J Nutr Sci Vitaminol (Tokyo). 1992;Spec No:585-8. doi: 10.3177/jnsv.38.special_585. J Nutr Sci Vitaminol (Tokyo). 1992. PMID: 1297818

4

Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.

Ohura T, Miyabayashi S, Narisawa K, Tada K. Ohura T, et al. Among authors: miyabayashi s. Hum Genet. 1991 May;87(1):41-4. doi: 10.1007/BF01213089. Hum Genet. 1991. PMID: 2037281

5

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

Endo H, Miyabayashi S, Tada K, Narisawa K. Endo H, et al. Among authors: miyabayashi s. J Inherit Metab Dis. 1991;14(5):793-9. doi: 10.1007/BF01799952. J Inherit Metab Dis. 1991. PMID: 1779625 No abstract available.

6

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

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: miyabayashi s. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

7

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.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Akanuma J, et al. Among authors: miyabayashi s. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

8

Immunochemical study in three patients with cytochrome c oxidase deficiency presenting Leigh's encephalomyelopathy.

Miyabayashi S, Ito T, Abukawa D, Narisawa K, Tada K, Tanaka M, Ozawa T, Droste M, Kadenbach B. Miyabayashi S, et al. J Inherit Metab Dis. 1987;10(3):289-92. doi: 10.1007/BF01800084. J Inherit Metab Dis. 1987. PMID: 2828763 No abstract available.

9

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

Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K. Mikami H, et al. Among authors: miyabayashi s. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

10

Prenatal diagnosis in high risk pregnancies for Zellweger syndrome.

Aikawa J, Sato K, Miyabayashi S, Tada K, Narisawa K, Chida N, Hashimoto T. Aikawa J, et al. Among authors: miyabayashi s. Acta Paediatr Jpn. 1992 Aug;34(4):454-8. doi: 10.1111/j.1442-200x.1992.tb00986.x. Acta Paediatr Jpn. 1992. PMID: 1414336

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