We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
- Authors
Wolf, Barry
- Abstract
Comments on the clinical and neuropsychological outcome of children with profound biotinidase deficiency. Percentage of patients with residual activities who are prone to develop clinical symptoms even without treatment; Use of the colorimetric enzymatic assay.
- Subjects
JUVENILE diseases; DEFICIENCY diseases
- Publication
European Journal of Pediatrics, 2002, Vol 161, Issue 3, p167
- ISSN
0340-6199
- Publication type
commentary
- DOI
10.1007/s00431-001-0902-8