Reassessment of biotin-responsiveness in “unresponsive” propionyl CoA carboxylase deficiency
- 1 December 1980
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 97 (6) , 964-966
- https://doi.org/10.1016/s0022-3476(80)80437-9
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Biotin-response OrganicaciduriaJournal of Clinical Investigation, 1979
- Stimulation of Propionyl CoA and β-Methylcrotonyl CoA Carboxylase Activities in Human Leukocytes and Cultured Fibroblasts by BiotinPediatric Research, 1979
- Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: Absence of response by structurally altered carboxylasesBiochemical Genetics, 1979
- Heterozygote Expression in Propionyl Coenzyme A Carboxylase DeficiencyJournal of Clinical Investigation, 1978
- BIOTIN RESPONSIVENESS IN PROPIONICACIDqMIAThe Lancet, 1978
- Propionic acidemia: Diagnosis by enzyme assay in frozen leukocytesThe Journal of Pediatrics, 1973