S. Stöckler-Ipsiroglu

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

C. Item, A. Mühl, D. Möslinger, 2001, European Journal of Human Genetics.

Mutation analysis in glycogen storage disease type 1 non-a

E. Mayatepek, F. Fresser, G. Utermann, 2000, Human Genetics.