Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. [electronic resource]
Producer: 20011004Description: 277-82 p. digitalISSN:- 0340-6199
- Adolescent
- Adult
- Amidohydrolases -- deficiency
- Austria -- epidemiology
- Biotin -- analogs & derivatives
- Biotinidase
- Child
- Child, Preschool
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Infant, Newborn
- Lysine -- administration & dosage
- Male
- Metabolism, Inborn Errors -- diagnosis
- Neonatal Screening
- Treatment Outcome
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.