Kure S - Search Results

1

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Shintaku H. Kure S, et al. J Hum Genet. 2019 Feb;64(2):67-71. doi: 10.1038/s10038-018-0529-5. Epub 2018 Nov 30. J Hum Genet. 2019. PMID: 30504912 Review. No abstract available.

2

Ectopic transcription: an application to the analysis of splicing errors in phenylalanine hydroxylase mRNA.

Takahashi K, Masamune A, Kure S, Matsubara Y, Narisawa K. Takahashi K, et al. Among authors: kure s. Acta Paediatr Suppl. 1994 Dec;407:45-6. doi: 10.1111/j.1651-2227.1994.tb13449.x. Acta Paediatr Suppl. 1994. PMID: 7766957 No abstract available.

3

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.

Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K. Ikeda H, et al. Among authors: kure s. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

4

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. Kure S, et al. Hum Genet. 1998 Apr;102(4):430-4. doi: 10.1007/s004390050716. Hum Genet. 1998. PMID: 9600239

5

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.

Kure S, Sakata Y, Miyabayashi S, Takahashi K, Shinka T, Matsubara Y, Hoshino H, Narisawa K. Kure S, et al. J Hum Genet. 1998;43(2):128-31. doi: 10.1007/s100380050053. J Hum Genet. 1998. PMID: 9621518

6

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K. Kure S, et al. Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31. doi: 10.1006/bbrc.1998.8985. Biochem Biophys Res Commun. 1998. PMID: 9675154

7

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K. Mikami H, et al. Among authors: kure s. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

8

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. Kure S, et al. J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1. J Pediatr. 1999. PMID: 10484807

9

Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: kure s. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

10

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: kure s. Hum Genet. 2001 Nov;109(5):526-34. doi: 10.1007/s004390100603. Epub 2001 Oct 5. Hum Genet. 2001. PMID: 11735028

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