Matsubara Y - Search Results

1

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: matsubara y. J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589. J Inherit Metab Dis. 1990. PMID: 2174091 No abstract available.

2

Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction.

Matsubara Y, Narisawa K, Tada K. Matsubara Y, et al. J Inherit Metab Dis. 1990;13(5):775-9. doi: 10.1007/BF01799586. J Inherit Metab Dis. 1990. PMID: 2246864 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: matsubara y. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

4

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Matsubara Y, Narisawa K, Tada K. Matsubara Y, et al. Eur J Pediatr. 1992 Mar;151(3):154-9. doi: 10.1007/BF01954373. Eur J Pediatr. 1992. PMID: 1601002 Review.

5

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

Ogasawara M, Matsubara Y, Mikami H, Narisawa K. Ogasawara M, et al. Among authors: matsubara y. Hum Mol Genet. 1994 Jun;3(6):867-72. doi: 10.1093/hmg/3.6.867. Hum Mol Genet. 1994. PMID: 7951229

6

Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.

Yao Y, Matsubara Y, Narisawa K. Yao Y, et al. Among authors: matsubara y. Acta Paediatr Jpn. 1994 Jun;36(3):231-5. doi: 10.1111/j.1442-200x.1994.tb03169.x. Acta Paediatr Jpn. 1994. PMID: 8091967

7

A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration.

Kure S, Maeda T, Fukushima N, Ohura T, Takahashi K, Nishikawa T, Matsubara Y, Izumi T, Narisawa K. Kure S, et al. Among authors: matsubara y. J Inherit Metab Dis. 1998 Jun;21(4):431-2. doi: 10.1023/a:1005375229278. J Inherit Metab Dis. 1998. PMID: 9700605 No abstract available.

8

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: matsubara y. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

9

Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Matsubara Y, Narisawa K, Tada K, Ikeda H, Yeqi Y, Danks DM, Green A, McCabe ER. Matsubara Y, et al. Prog Clin Biol Res. 1992;375:453-62. Prog Clin Biol Res. 1992. PMID: 1359564 No abstract available.

10

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas LJ 2nd, Pollitt RJ, Rhead WJ, Roe CR. Matsubara Y, et al. Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505. doi: 10.1016/0006-291x(90)91421-n. Biochem Biophys Res Commun. 1990. PMID: 2393404

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,045 results

Search Page

Filters