Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings-Reference-Cited by-同舟云学术

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Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings

Published:2012 Issue: Volume: Page:21-26
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Chang Hye-Sook,Shibata Takako,Arai Satoshi,Zhang Chunhua,Yabuki Akira,Mitani Sawane,Higo Takashi,Sunagawa Kazuhiro,Mizukami Keijiro,Yamato Osamu

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2012_139

Reference18 articles.

1. Assmann B, Hoffmann GF, Wagner L et al (1997) Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? J Inherit Metab Dis 20:681–688

2. Chang HS, Arai T, Yabuki A et al (2010) Rapid and reliable genotyping technique for GM1 gangliosidosis in Shiba dogs by real-time polymerase chain reaction with TaqMan minor groove binder probes. J Vet Diagn Invest 22:234–237

3. Duran M, Rovers P, de Bree PK et al (1990) Dihydropyrimidinuria. Lancet 336:817–818

4. Duran M, Rovers P, de Bree PK et al (1991) Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis 14:367–370

5. Hamajima N, Kouwaki M, Vreken P et al (1998) Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet 63:717–726

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1. Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy;Laboratory Medicine;2024-08-10

2. Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease);Animals;2023-04-13

3. Genetic Evaluation of Inherited Hematologic Diseases;Schalm's Veterinary Hematology;2022-03-04

4. Hyperammonemia in azotemic cats;Journal of Feline Medicine and Surgery;2020-11-20

5. A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report;BMC Medical Genetics;2020-06-29

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