Suzuki Y - Search Results

1

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

Suzuki Y, Aoki Y, Ishida Y, Chiba Y, Iwamatsu A, Kishino T, Niikawa N, Matsubara Y, Narisawa K. Suzuki Y, et al. Nat Genet. 1994 Oct;8(2):122-8. doi: 10.1038/ng1094-122. Nat Genet. 1994. PMID: 7842009

2

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

Suzuki Y, Aoki Y, Sakamoto O, Li X, Miyabayashi S, Kazuta Y, Kondo H, Narisawa K. Suzuki Y, et al. Clin Chim Acta. 1996 Jul 15;251(1):41-52. doi: 10.1016/0009-8981(96)06291-2. Clin Chim Acta. 1996. PMID: 8814349

3

Identification of holocarboxylase synthetase (HCS) proteins in human placenta.

Hiratsuka M, Sakamoto O, Li X, Suzuki Y, Aoki Y, Narisawa K. Hiratsuka M, et al. Among authors: suzuki y. Biochim Biophys Acta. 1998 Jun 11;1385(1):165-71. doi: 10.1016/s0167-4838(98)00032-6. Biochim Biophys Acta. 1998. PMID: 9630604

4

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K. Aoki Y, et al. Among authors: suzuki y. Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927. Hum Genet. 1999. PMID: 10190325

5

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Suormala T, Baumgartner ER, Gibson KM, Narisawa K. Sakamoto O, et al. Among authors: suzuki y. Pediatr Res. 1999 Dec;46(6):671-6. doi: 10.1203/00006450-199912000-00004. Pediatr Res. 1999. PMID: 10590022

6

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, Kudoh J, Shimizu N, Narisawa K. Sakamoto O, et al. Among authors: suzuki y. Eur J Pediatr. 2000 Jan-Feb;159(1-2):18-22. doi: 10.1007/s004310050004. Eur J Pediatr. 2000. PMID: 10653324

7

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K. Takahashi K, et al. Among authors: suzuki y. Am J Med Genet. 2000 May 15;92(2):90-4. Am J Med Genet. 2000. PMID: 10797430

8

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: suzuki y. J Hum Genet. 2000;45(6):358-62. doi: 10.1007/s100380070008. J Hum Genet. 2000. PMID: 11185745

9

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y. Kure S, et al. Among authors: suzuki y. J Hum Genet. 2001;46(7):378-84. doi: 10.1007/s100380170057. J Hum Genet. 2001. PMID: 11450847

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: suzuki y. 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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