Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Mühl, A

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. [electronic resource] - European journal of human genetics : EJHG Apr 2001 - 237-43 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5200620 doi


Amidohydrolases--deficiency
Automation
Biotinidase
Electrophoresis, Polyacrylamide Gel--methods
Humans
Infant, Newborn
Mutation
Neonatal Screening
Sequence Analysis, DNA