Sumi S - Search Results

1

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y. Suchi M, et al. Among authors: sumi s. Am J Hum Genet. 1997 Mar;60(3):525-39. Am J Hum Genet. 1997. PMID: 9042911 Free PMC article.

2

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.

Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M. Kawai Y, et al. Among authors: sumi s. Hum Genet. 2005 Apr;116(5):340-6. doi: 10.1007/s00439-004-1232-5. Epub 2005 Jan 27. Hum Genet. 2005. PMID: 15806399

3

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

Imaeda M, Sumi S, Imaeda H, Suchi M, Kidouchi K, Togari H, Wada Y. Imaeda M, et al. Among authors: sumi s. Tohoku J Exp Med. 1998 May;185(1):67-70. doi: 10.1620/tjem.185.67. Tohoku J Exp Med. 1998. PMID: 9710947 Free article.

4

[Xanthine oxidase (xanthine dehydrogenase)].

Sumi S, Wada Y. Sumi S, et al. Nihon Rinsho. 1996 Dec;54(12):3226-9. Nihon Rinsho. 1996. PMID: 8976096 Review. Japanese.

5

[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].

Sumi S, Wada Y. Sumi S, et al. Nihon Rinsho. 1996 Dec;54(12):3333-6. Nihon Rinsho. 1996. PMID: 8976115 Review. Japanese.

6

Pyrimidine metabolism in hereditary orotic aciduria.

Sumi S, Suchi M, Kidouchi K, Morishita H, Ohba S, Wada Y. Sumi S, et al. J Inherit Metab Dis. 1997 Mar;20(1):104-5. doi: 10.1023/a:1005330127995. J Inherit Metab Dis. 1997. PMID: 9061575 No abstract available.

7

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y. Hamajima N, et al. Among authors: sumi s. Am J Hum Genet. 1998 Sep;63(3):717-26. doi: 10.1086/302022. Am J Hum Genet. 1998. PMID: 9718352 Free PMC article.

8

Decreased fluorouracil cytotoxic effect on EB-virus transformed lymphocytes from hereditary orotic aciduria.

Andou M, Sumi S, Togari H, Wada Y. Andou M, et al. Among authors: sumi s. Int J Mol Med. 2000 Jul;6(1):69-72. doi: 10.3892/ijmm.6.1.69. Int J Mol Med. 2000. PMID: 10851269

9

[Purine nucleoside phosphorylase (PNP) deficiency].

Sumi S, Wada Y. Sumi S, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):458-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590100 Review. Japanese. No abstract available.

10

[Pyrimidine-5'-nucleotidase deficiency].

Sumi S, Wada Y. Sumi S, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):487-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590109 Review. Japanese. No abstract available.

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