Narisawa K - Search Results

1

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.

Narisawa K, Gibson KM, Sweetman L, Nyhan WL. Narisawa K, et al. Clin Chim Acta. 1989 Sep 15;184(1):57-64. doi: 10.1016/0009-8981(89)90256-8. Clin Chim Acta. 1989. PMID: 2480857

2

Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.

Kikuchi M, Narisawa K, Tada K, Sweetman L. Kikuchi M, et al. Among authors: narisawa k. Clin Chim Acta. 1990 Aug 31;189(3):297-301. doi: 10.1016/0009-8981(90)90311-f. Clin Chim Acta. 1990. PMID: 2225461

3

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Gibson KM, Nyhan WL, Sweetman L, Narisawa K, Lehnert W, Divry P, Robinson BH, Roth KS, Beemer FA, van Sprang FJ, et al. Gibson KM, et al. Among authors: narisawa k. Eur J Pediatr. 1988 Oct;148(1):76-82. doi: 10.1007/BF00441821. Eur J Pediatr. 1988. PMID: 3197737

4

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK. Narisawa K, et al. J Clin Invest. 1986 Apr;77(4):1148-52. doi: 10.1172/JCI112415. J Clin Invest. 1986. PMID: 3082934 Free PMC article.

5

Assay of methylmalonyl CoA mutase with high-performance liquid chromatography.

Kikuchi M, Hanamizu H, Narisawa K, Tada K. Kikuchi M, et al. Among authors: narisawa k. Clin Chim Acta. 1989 Oct 16;184(3):307-13. doi: 10.1016/0009-8981(89)90064-8. Clin Chim Acta. 1989. PMID: 2575466

6

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: narisawa k. Pediatr Res. 1999 Dec;46(6):671-6. doi: 10.1203/00006450-199912000-00004. Pediatr Res. 1999. PMID: 10590022

7

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

8

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. Among authors: narisawa k. Clin Chim Acta. 1996 Jul 15;251(1):41-52. doi: 10.1016/0009-8981(96)06291-2. Clin Chim Acta. 1996. PMID: 8814349

9

Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

Hwu WL, Suzuki Y, Yang X, Li X, Chou SP, Narisawa K, Tsai WY. Hwu WL, et al. Among authors: narisawa k. J Formos Med Assoc. 2000 Feb;99(2):174-7. J Formos Med Assoc. 2000. PMID: 10770035

10

[Methylcrotonyl-CoA carboxylase deficiency].

Narisawa K. Narisawa K. Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):592-4. Tanpakushitsu Kakusan Koso. 1988. PMID: 3270869 Japanese. No abstract available.

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