First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III

Author:

Maire I.,Mandon G.,Mathieu M.

Publisher

Springer Netherlands

Reference5 articles.

1. Brown, D., Waindle, L. and Illingworth Brown, B. The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease. J. Biol. Chem. 253 (1978) 5001–5011

2. De Parscau, L., Guibaud, P. and Odièvre, M. Evolution à long terme des glycogénoses hépatiques: étude rétrospective de 76 observations. Arch. Franç. Pediatr. 45 (1988) 641–645

3. Illingworth, B., Cori, G. and Cori, C. Amylo-1,6-glucosidase in muscle tissue in generalized storage disease. J. Biol. Chem. 218 (1956) 123–129

4. Maire, I. and Mathieu, M. Possible prenatal diagnosis of type III glycogenosis. J. Inher. Metab. Dis. 9 (1986) 89–91

5. Van Diggelen, O., Janse, H. and Smit, G. Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre-and postnatal diagnosis of glycogenosis type III. Clin. Chim. Acta 149 (1985) 129–134

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