MeSH Review:
Biotinidase Deficiency
- Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. Mühl, A., Möslinger, D., Item, C.B., Stöckler-Ipsiroglu, S. Eur. J. Hum. Genet. (2001)
- Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Weber, P., Scholl, S., Baumgartner, E.R. Developmental medicine and child neurology. (2004)
- Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Möslinger, D., Stöckler-Ipsiroglu, S., Scheibenreiter, S., Tiefenthaler, M., Mühl, A., Seidl, R., Strobl, W., Plecko, B., Suormala, T., Baumgartner, E.R. Eur. J. Pediatr. (2001)