Owada M - Search Results

1

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: owada m. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

2

A survey on prenatal diagnosis of inherited metabolic diseases in Japan.

Tada K, Aikawa J, Igarashi Y, Hayasaka K, Narisawa K, Owada M, Kitagawa T. Tada K, et al. Among authors: owada m. J Inherit Metab Dis. 1989;12 Suppl 2:260-2. doi: 10.1007/BF03335392. J Inherit Metab Dis. 1989. PMID: 2512420 No abstract available.

3

Guide for diagnosis and treatment of hyperphenylalaninemia.

Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Among authors: owada m. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362

4

Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

Kajihara S, Mukai T, Arai Y, Owada M, Kitagawa T, Hori K. Kajihara S, et al. Among authors: owada m. Am J Hum Genet. 1990 Sep;47(3):562-7. Am J Hum Genet. 1990. PMID: 2203259 Free PMC article.

5

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.

Tsuda M, Kaneda M, Sakiyama T, Inana I, Owada M, Kiryu C, Shiraishi T, Kakinuma K. Tsuda M, et al. Among authors: owada m. Hum Genet. 1998 Oct;103(4):377-81. doi: 10.1007/s004390050836. Hum Genet. 1998. PMID: 9856476

6

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I. Matsuura T, et al. Among authors: owada m. J Inherit Metab Dis. 1993;16(1):31-8. doi: 10.1007/BF00711312. J Inherit Metab Dis. 1993. PMID: 8487501

7

Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.

Tsuda M, Horinouchi K, Sakiyama T, Owada M. Tsuda M, et al. Among authors: owada m. Pediatr Int. 2002 Jun;44(3):333-4. doi: 10.1046/j.1442-200x.2002.01543.x. Pediatr Int. 2002. PMID: 11982911 No abstract available.

8

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.

Hanihara T, Inoue K, Kawanishi C, Sugiyama N, Miyakawa T, Onishi H, Yamada Y, Osaka H, Kosaka K, Iwabuchi K, Owada M. Hanihara T, et al. Among authors: owada m. Mov Disord. 1997 May;12(3):408-11. doi: 10.1002/mds.870120321. Mov Disord. 1997. PMID: 9159737

9

A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome.

Tsuda M, Sakiyama T, Owada M, Chiba Y. Tsuda M, et al. Among authors: owada m. Acta Paediatr Jpn. 1996 Jun;38(3):265-6. doi: 10.1111/j.1442-200x.1996.tb03483.x. Acta Paediatr Jpn. 1996. PMID: 8741319

10

Attitude to extended use and long-term storage of newborn screening blood spots in Japan.

Fujii C, Sato Y, Harada S, Kakee N, Gu YH, Kato T, Shintaku H, Owada M, Hirahara F, Umehashi H, Yoshino M. Fujii C, et al. Among authors: owada m. Pediatr Int. 2010 Jun;52(3):393-7. doi: 10.1111/j.1442-200X.2009.03018.x. Epub 2009 Dec 8. Pediatr Int. 2010. PMID: 20003144

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