Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Möslinger, D
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. [electronic resource] - European journal of pediatrics May 2001 - 277-82 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6199
10.1007/s004310100740 doi
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
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. [electronic resource] - European journal of pediatrics May 2001 - 277-82 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6199
10.1007/s004310100740 doi
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