A mutation of pyruvate carboxylase in fibroblasts from a patient with severe, chronic lactic acidaemia
- 1 June 1983
- journal article
- research article
- Published by Elsevier in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 131 (1-2) , 39-44
- https://doi.org/10.1016/0009-8981(83)90350-9
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cellsClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHYActa Paediatrica, 1982
- Prenatal diagnosis of pyruvate carboxylase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cellsJournal of Inherited Metabolic Disease, 1979
- Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's DiseasePediatric Research, 1979
- The Clinical and Biochemical Implications of Pyruvate Carboxylase DeficiencyJournal of Clinical Endocrinology & Metabolism, 1977
- Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase DeficiencyDevelopmental Medicine and Child Neurology, 1977
- Purification and properties of human liver pyruvate carboxylaseBiochemical Medicine, 1974