Partial biotinidase deficiency: Clinical and biochemical features
- 1 January 1990
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 116 (1) , 78-83
- https://doi.org/10.1016/s0022-3476(05)81649-x
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
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- Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening resultsEuropean Journal of Pediatrics, 1988
- Biotinidase deficiency: Initial clinical features and rapid diagnosisAnnals of Neurology, 1985
- Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening ProgramNew England Journal of Medicine, 1985
- Biotinidase deficiency: A novel vitamin recycling defectJournal of Inherited Metabolic Disease, 1985
- A screening method for biotinidase deficiency in newborns.Clinical Chemistry, 1984
- Phenotypic variation in biotinidase deficiencyThe Journal of Pediatrics, 1983
- Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1983