Kuroda Y - 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: kuroda y. 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

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. Among authors: kuroda y. J Inherit Metab Dis. 1992;15(6):848-56. doi: 10.1007/BF01800220. J Inherit Metab Dis. 1992. PMID: 1338114

3

A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW, Kuroda Y. Saijo T, et al. Among authors: kuroda y. Am J Hum Genet. 1991 Sep;49(3):668-73. Am J Hum Genet. 1991. PMID: 1652893 Free PMC article.

4

Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia.

Huq AH, Ito M, Naito E, Saijo T, Takeda E, Kuroda Y. Huq AH, et al. Among authors: kuroda y. Pediatr Res. 1991 Jul;30(1):11-4. doi: 10.1203/00006450-199107000-00003. Pediatr Res. 1991. PMID: 1909778

5

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.

Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y. Naito E, et al. Among authors: kuroda y. Pediatr Res. 1994 Sep;36(3):340-6. doi: 10.1203/00006450-199409000-00013. Pediatr Res. 1994. PMID: 7808831

6

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.

Matsuda J, Ito M, Naito E, Yokota I, Kuroda Y. Matsuda J, et al. Among authors: kuroda y. J Inherit Metab Dis. 1995;18(5):534-46. doi: 10.1007/BF02435998. J Inherit Metab Dis. 1995. PMID: 8598634

7

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. Among authors: kuroda y. J Inherit Metab Dis. 1995;18(5):547-57. doi: 10.1007/BF02435999. J Inherit Metab Dis. 1995. PMID: 8598635

8

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: kuroda y. Biochem Biophys Res Commun. 1996 Nov 12;228(2):446-51. doi: 10.1006/bbrc.1996.1680. Biochem Biophys Res Commun. 1996. PMID: 8920933

9

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: kuroda y. J Inherit Metab Dis. 1997 Aug;20(4):539-48. doi: 10.1023/a:1005305614374. J Inherit Metab Dis. 1997. PMID: 9266390

10

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: kuroda y. Eur J Pediatr. 1998 Aug;157(8):648-52. doi: 10.1007/s004310050903. Eur J Pediatr. 1998. PMID: 9727848

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