Ito M - Search Results

1

Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.

Uotani S, Yamasaki H, Takino H, Kawasaki E, Matsuo H, Yamasaki S, Jinno Y, Niikawa N, Ito M, Sugie H, Yamaguchi Y, Eguchi K. Uotani S, et al. Among authors: ito m. J Inherit Metab Dis. 2000 Jul;23(5):527-8. doi: 10.1023/a:1005632818722. J Inherit Metab Dis. 2000. PMID: 10947213 No abstract available.

2

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Ito M, Huq AH, Naito E, Saijo T, Takeda E, Kuroda Y. Ito M, et al. J Inherit Metab Dis. 1992;15(6):848-56. doi: 10.1007/BF01800220. J Inherit Metab Dis. 1992. PMID: 1338114

3

Two types of murine CD34 mRNA generated by alternative splicing.

Suda J, Sudo T, Ito M, Ohno N, Yamaguchi Y, Suda T. Suda J, et al. Among authors: ito m. Blood. 1992 May 1;79(9):2288-95. Blood. 1992. PMID: 1373970 Free article.

4

[A biochemical study of an animal model with defective muscle glycolysis, induced by iodoacetate administration].

Furukawa N, Sugie H, Tsurui S, Ito M, Igarashi Y. Furukawa N, et al. Among authors: ito m. No To Hattatsu. 1992 Jul;24(4):342-6. No To Hattatsu. 1992. PMID: 1520510 Japanese.

5

High-dose i.v. human immunoglobulin in a case with infantile opsoclonus polymyoclonia syndrome.

Sugie H, Sugie Y, Akimoto H, Endo K, Shirai M, Ito M. Sugie H, et al. Among authors: ito m. Acta Paediatr. 1992 Apr;81(4):371-2. doi: 10.1111/j.1651-2227.1992.tb12248.x. Acta Paediatr. 1992. PMID: 1606405

6

[Study of human muscle biopsies with muscle glycogen storage diseases using 1H nuclear magnetic resonance spectroscopy (NMRS)--analysis of perchloric acid extracts of muscles].

Sugie H, Sugie Y, Ito M, Tsurui S. Sugie H, et al. Among authors: ito m. Rinsho Shinkeigaku. 1991 Jun;31(6):616-8. Rinsho Shinkeigaku. 1991. PMID: 1657479 Japanese.

7

A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.

Yoshimoto M, Nakayama M, Baba T, Uehara Y, Niikawa N, Ito M, Tsuji Y. Yoshimoto M, et al. Among authors: ito m. Acta Paediatr Scand. 1991 Oct;80(10):984-7. doi: 10.1111/j.1651-2227.1991.tb11769.x. Acta Paediatr Scand. 1991. PMID: 1755313

8

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

Sugie H, Sugie Y, Nishida M, Ito M, Tsurui S, Suzuki M, Miyamoto R, Igarashi Y. Sugie H, et al. Among authors: ito m. J Child Neurol. 1989 Apr;4(2):95-9. doi: 10.1177/088307388900400203. J Child Neurol. 1989. PMID: 2715616

9

A case of paroxysmal tonic upward gaze associated with psychomotor retardation.

Sugie H, Sugie Y, Ito M, Tsurui S, Kawamura H, Yamase H, Ogasawara M, Matsui Y. Sugie H, et al. Among authors: ito m. Dev Med Child Neurol. 1995 Apr;37(4):362-5. doi: 10.1111/j.1469-8749.1995.tb12014.x. Dev Med Child Neurol. 1995. PMID: 7535268

10

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y. Sugie H, et al. Among authors: ito m. Clin Chim Acta. 1995 Apr 30;236(1):81-6. doi: 10.1016/0009-8981(95)06044-x. Clin Chim Acta. 1995. PMID: 7664468

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