Author:
Matern Dietrich,Seydewitz Hans Hermann,Bali Deeksha,Lang Christine,Chen Yuan-Tsong
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference64 articles.
1. Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K (2000) Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet 91: 107–112
2. Chen YT (2000) The glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill. New York, pp. 1521–1551.
3. Chevalier-Porst F, Bozon D, Bonardort AM, Bruni N, Mithieux G, Mathieu M, Maire I (1996) Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet 33: 358–360
4. Chiang SC, Lee YM, Chang MH, Wang TR, Ko TM, Hwu WL (2000) Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 45: 197–199
5. Cori GT, Cori CF (1952) Glucose-6-phosphatase of the liver in glycogen storage disease. J Biol Chem 199: 661–667
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