A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
CITATION STYLE
Dahiphale, R., Jain, S., & Agrawal, M. (2008). Biotinidase deficiency. Indian Pediatrics, 45(9), 777–779. https://doi.org/10.1212/wnl.36.8.1107
Mendeley helps you to discover research relevant for your work.