Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

Author:

De Meirleir Linda J.,Van Coster Rudy,Lissens Willy

Publisher

Springer Berlin Heidelberg

Reference77 articles.

1. Saudubray JM, Marsac C, Charpentier C et al (1976) Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings. Acta Paediatr Scand 65:717–724

2. Robinson BH, Oei J, Sherwood WG et al (1984) The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 36:283–294

3. Van Coster RN, Janssens S, Misson JP et al (1998) Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples. Prenat Diagn 18: 1041–1044

4. Brun N, Robitaille Y, Grignon A et al (1999) Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet 84:94–101

5. Ahmad A, Kahler SG, Kishnani PS et al (1999) Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. Am J Med Genet 87: 331–338

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