Ito M - Search Results

1

Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II.

Yokota I, Takeda E, Ito M, Kobashi H, Saijo T, Kuroda Y. Yokota I, et al. Among authors: ito m. J Inherit Metab Dis. 1991;14(2):231-40. doi: 10.1007/BF01800596. J Inherit Metab Dis. 1991. PMID: 1653381

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

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

4

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

5

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: ito m. Am J Hum Genet. 1991 Sep;49(3):668-73. Am J Hum Genet. 1991. PMID: 1652893 Free PMC article.

6

25-Hydroxyvitamin D-24-hydroxylase in phytohemagglutinin-stimulated lymphocytes: intermediate bioresponse to 1,25-dihydroxyvitamin D3 of cells from parents of patients with vitamin D-dependent rickets type II.

Takeda E, Yokota I, Ito M, Kobashi H, Saijo T, Kuroda Y. Takeda E, et al. Among authors: ito m. J Clin Endocrinol Metab. 1990 Apr;70(4):1068-74. doi: 10.1210/jcem-70-4-1068. J Clin Endocrinol Metab. 1990. PMID: 2156884

7

Effect of long-term treatment with massive doses of 1 alpha-hydroxyvitamin D3 on calcium-phosphate balance in patients with vitamin D-dependent rickets type II.

Takeda E, Yokota I, Saijo T, Kawakami I, Ito M, Kuroda Y. Takeda E, et al. Among authors: ito m. Acta Paediatr Jpn. 1990 Feb;32(1):39-43. doi: 10.1111/j.1442-200x.1990.tb00782.x. Acta Paediatr Jpn. 1990. PMID: 2158205

8

Vitamin D-dependent rickets type II: regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine.

Takeda E, Miyamoto K, Kubota M, Minami H, Yokota I, Saijo T, Naito E, Ito M, Kuroda Y. Takeda E, et al. Among authors: ito m. Biochim Biophys Acta. 1994 Nov 29;1227(3):195-9. doi: 10.1016/0925-4439(94)90095-7. Biochim Biophys Acta. 1994. PMID: 7986828

9

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: ito m. J Inherit Metab Dis. 1995;18(5):534-46. doi: 10.1007/BF02435998. J Inherit Metab Dis. 1995. PMID: 8598634

10

Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome.

Kuroda Y, Ito M, Naito E, Yokota I, Matsuda J, Saijo T, Kondo S, Yoneda Y, Miyazaki M, Mori K, Iwamoto H. Kuroda Y, et al. Among authors: ito m. J Pediatr. 1997 Sep;131(3):450-2. doi: 10.1016/s0022-3476(97)80075-3. J Pediatr. 1997. PMID: 9329426

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