TY  - GEN
AU  - Mühl,A
AU  - Möslinger,D
AU  - Item,C B
AU  - Stöckler-Ipsiroglu,S
TI  - Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation
SN  - 1018-4813
PY  - 2001///0705
KW  - Amidohydrolases
KW  - deficiency
KW  - Automation
KW  - Biotinidase
KW  - Electrophoresis, Polyacrylamide Gel
KW  - methods
KW  - Humans
KW  - Infant, Newborn
KW  - Mutation
KW  - Neonatal Screening
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5200620
ER  -