Hayasaka K - Search Results

1

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: hayasaka k. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

2

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.

Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, Yamaguchi S, Ohura T, Hayasaka K. Ikeda H, et al. Among authors: hayasaka k. Am J Med Genet. 1998 Dec 4;80(4):327-9. Am J Med Genet. 1998. PMID: 9856558

3

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K. Okubo M, et al. Among authors: hayasaka k. Am J Med Genet. 2000 Jul 31;93(3):211-4. doi: 10.1002/1096-8628(20000731)93:3<211::aid-ajmg10>3.0.co;2-z. Am J Med Genet. 2000. PMID: 10925384

4

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Kato M, Kimura T, Lin C, Ito A, Kodama S, Morikawa T, Soga T, Hayasaka K. Kato M, et al. Among authors: hayasaka k. Hum Genet. 1999 Apr;104(4):341-4. doi: 10.1007/s004390050963. Hum Genet. 1999. PMID: 10369164

5

Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe.

Hayasaka K, Narisawa K, Ohura T, Ogawa E, Dahl HH. Hayasaka K, et al. J Inherit Metab Dis. 1990;13(6):873-8. doi: 10.1007/BF01800212. J Inherit Metab Dis. 1990. PMID: 1981920

6

Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.

Kanno M, Suzuki M, Tanikawa K, Numakura C, Matsuzawa SI, Niihori T, Aoki Y, Matsubara Y, Makino S, Tamiya G, Nakano S, Funayama R, Shirota M, Nakayama K, Mitsui T, Hayasaka K. Kanno M, et al. Among authors: hayasaka k. J Hum Genet. 2022 Jul;67(7):393-397. doi: 10.1038/s10038-022-01017-0. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35087201

7

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

Mikami H, Matsubara Y, Hayasaka K, Narisawa K, Obinata M, Watanabe A, Haginoya K, Miyabayashi S, Tada K, Dahl HH. Mikami H, et al. Among authors: hayasaka k. J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589. J Inherit Metab Dis. 1990. PMID: 2174091 No abstract available.

8

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

Christodoulou J, Kure S, Hayasaka K, Clarke JT. Christodoulou J, et al. Among authors: hayasaka k. J Pediatr. 1993 Jul;123(1):100-2. doi: 10.1016/s0022-3476(05)81550-1. J Pediatr. 1993. PMID: 8320601

9

Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid.

Iinuma K, Hayasaka K, Narisawa K, Tada K, Hori K. Iinuma K, et al. Among authors: hayasaka k. Eur J Pediatr. 1988 Dec;148(3):267-9. doi: 10.1007/BF00441418. Eur J Pediatr. 1988. PMID: 3145882

10

Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese.

Akaba K, Kimura T, Sasaki A, Tanabe S, Ikegami T, Hashimoto M, Umeda H, Yoshida H, Umetsu K, Chiba H, Yuasa I, Hayasaka K. Akaba K, et al. Among authors: hayasaka k. Biochem Mol Biol Int. 1998 Sep;46(1):21-6. doi: 10.1080/15216549800203512. Biochem Mol Biol Int. 1998. PMID: 9784835

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