Ito M - Search Results

1

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.

Naito E, Ito M, Yokota I, Matsuda J, Yara A, Kuroda Y. Naito E, et al. Among authors: ito m. Hum Mol Genet. 1994 Jul;3(7):1193-4. doi: 10.1093/hmg/3.7.1193. Hum Mol Genet. 1994. PMID: 7981697 No abstract available.

2

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Ito M, Naito E, Yokota I, Takeda E, Matsuda J, Hirose M, Sejima H, Aiba H, Hojo H, Kuroda Y. Ito M, et al. J Inherit Metab Dis. 1995;18(5):547-57. doi: 10.1007/BF02435999. J Inherit Metab Dis. 1995. PMID: 8598635

3

Stable restoration of pyruvate dehydrogenase complex in E1-defective human lymphoblastoid cells: evidence that three C-terminal amino acids of E1 alpha are essential for the structural integrity of heterotetrameric E1.

Saijo T, Naito E, Ito M, Yokota I, Matsuda J, Kuroda Y. Saijo T, et al. Among authors: ito m. Biochem Biophys Res Commun. 1996 Nov 12;228(2):446-51. doi: 10.1006/bbrc.1996.1680. Biochem Biophys Res Commun. 1996. PMID: 8920933

4

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y. Naito E, et al. Among authors: ito m. J Inherit Metab Dis. 1997 Aug;20(4):539-48. doi: 10.1023/a:1005305614374. J Inherit Metab Dis. 1997. PMID: 9266390

5

[Lipoamide dehydrogenase deficiency].

Ito M, Matsuda J. Ito M, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):341-2. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590063 Review. Japanese. No abstract available.

6

[Pyruvate dehydrogenase phosphatase deficiency].

Ito M, Matsuda J. Ito M, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):343-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590064 Review. Japanese. No abstract available.

7

Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.

Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Kuroda Y. Naito E, et al. Among authors: ito m. Eur J Pediatr. 1998 Aug;157(8):648-52. doi: 10.1007/s004310050903. Eur J Pediatr. 1998. PMID: 9727848

8

Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.

Naito E, Ito M, Yokota I, Saijo T, Chen S, Maehara M, Kuroda Y. Naito E, et al. Among authors: ito m. J Neurol Sci. 1999 Dec 1;171(1):56-9. doi: 10.1016/s0022-510x(99)00250-6. J Neurol Sci. 1999. PMID: 10567050 Review.

9

[Pyruvate dehydrogenase complex deficiency].

Ito M, Kuroda Y. Ito M, et al. Ryoikibetsu Shokogun Shirizu. 2001;(36):103-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596336 Review. Japanese. No abstract available.

10

Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.

Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Shinahara K, Kuroda Y. Naito E, et al. Among authors: ito m. Neuropediatrics. 2001 Dec;32(6):295-8. doi: 10.1055/s-2001-20404. Neuropediatrics. 2001. PMID: 11870584

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