Enzyme activity in classical and variant forms of maple syrup urine disease
- 1 August 1972
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 81 (2), 312-320
- https://doi.org/10.1016/s0022-3476(72)80301-9
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Intermittent Branched Chain Ketonuria: Variant of Maple Syrup Urine DiseaseClinical Biochemistry, 1971
- THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASEThe Lancet, 1971
- 50. MAPLE SYRUP URINE DISEASE VARIANT — AMINO ACID PATTERN AND PROBLEMS OF TREATMENT DURING ACUTE ATTACKSActa Paediatrica, 1970
- A new variant of maple syrup urine disease (branched chain ketoaciduria): Clinical and biochemical evaluationThe American Journal of Medicine, 1970
- Enzyme defect in skin fibroblasts in intermittent branched-chain detonuria and in maple syrup urine diseaseBiochemical Medicine, 1969
- Intermittent Branched-Chain KetonuriaNew England Journal of Medicine, 1967
- Detection of the heterozygote in maple syrup urine diseaseThe Journal of Pediatrics, 1965
- Late Manifesting Variant of Branched-Chain Ketoaciduria (Maple Syrup Urine Disease)Acta Paediatrica, 1964
- The metabolism of leucine in tissue culture of skin fibroblasts of maple-syrup-urine diseaseBiochimica et Biophysica Acta, 1963
- Metabolism of the white blood cells in maple-syrup-urine diseaseBiochimica et Biophysica Acta, 1960