Phenotypic variation in biotinidase deficiency
- 1 August 1983
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 103 (2) , 233-237
- https://doi.org/10.1016/s0022-3476(83)80351-5
Abstract
No abstract availableThis publication has 26 references indexed in Scilit:
- Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduriaThe Journal of Pediatrics, 1983
- Impaired Intestinal Absorption of Biotin in Juvenile Multiple Carboxylase DeficiencyNew England Journal of Medicine, 1983
- Deficient Biotinidase Activity in Late-Onset Multiple Carboxylase DeficiencyNew England Journal of Medicine, 1983
- Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutritionThe Journal of Pediatrics, 1981
- Biotin Deficiency: An Unusual Complication of Parenteral AlimentationNew England Journal of Medicine, 1981
- Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary BiotinNew England Journal of Medicine, 1981
- 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-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSIONThe Lancet, 1979
- Heterozygote Expression in Propionyl Coenzyme A Carboxylase DeficiencyJournal of Clinical Investigation, 1978
- Organic aciduria. Treatable cause of floppy infant syndrome.Archives of Disease in Childhood, 1976