Miyabayashi S - Search Results

1

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

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S. Sakamoto O, et al. Among authors: miyabayashi s. Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x. Pediatr Int. 2011. PMID: 21639866

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

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

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

Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.

Haginoya K, Miyabayashi S, Iinuma K, Okino E, Maesaka H, Tada K. Haginoya K, et al. Among authors: miyabayashi s. Pediatr Neurol. 1992 Jan-Feb;8(1):13-8. doi: 10.1016/0887-8994(92)90046-2. Pediatr Neurol. 1992. PMID: 1313674

6

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

7

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

Haginoya K, Miyabayashi S, Iinuma K, Tada K. Haginoya K, et al. Among authors: miyabayashi s. Acta Neuropathol. 1990;80(6):642-8. doi: 10.1007/BF00307633. Acta Neuropathol. 1990. PMID: 2177307

8

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

Ohura T, Inoue CN, Abukawa D, Chiba AT, Tanaka T, Kakizawa H, Miyabayashi S, Igarashi Y, Iinuma K, Narisawa K. Ohura T, et al. Among authors: miyabayashi s. J Inherit Metab Dis. 1995;18(3):361-2. doi: 10.1007/BF00710433. J Inherit Metab Dis. 1995. PMID: 7474908 No abstract available.

9

Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy.

Haginoya K, Miyabayashi S, Iinuma K, Tada K. Haginoya K, et al. Among authors: miyabayashi s. Acta Neuropathol. 1993;85(4):370-7. doi: 10.1007/BF00334446. Acta Neuropathol. 1993. PMID: 8386896

10

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

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