TY  - GEN
AU  - Möslinger,D
AU  - Stöckler-Ipsiroglu,S
AU  - Scheibenreiter,S
AU  - Tiefenthaler,M
AU  - Mühl,A
AU  - Seidl,R
AU  - Strobl,W
AU  - Plecko,B
AU  - Suormala,T
AU  - Baumgartner,E R
TI  - Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
SN  - 0340-6199
PY  - 2001///1004
KW  - Adolescent
KW  - Adult
KW  - Amidohydrolases
KW  - deficiency
KW  - Austria
KW  - epidemiology
KW  - Biotin
KW  - analogs & derivatives
KW  - Biotinidase
KW  - Child
KW  - Child, Preschool
KW  - Chromatography, High Pressure Liquid
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Lysine
KW  - administration & dosage
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - diagnosis
KW  - Neonatal Screening
KW  - Treatment Outcome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s004310100740
ER  -