Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States
- 1 June 1997
- journal article
- Published by Elsevier in Biochemical and Molecular Medicine
- Vol. 61 (1) , 22-27
- https://doi.org/10.1006/bmme.1997.2597
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
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- A routine method for the establishment of permanent growing lymphoblastoid cell linesHuman Genetics, 1986
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- 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