R. M. Bertele‐Harms

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

HK Harms, KP Zimmer, Karin Kurnik et al. · Acta Paediatrica · 2002 · 76 citations

Life Sciences, Biochemistry, Pathology +12

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

H. K. Harms, KP Zimmer, Karin Kurnik et al. · Acta Paediatrica · 2002 · 73 citations

Life Sciences, Biochemistry, Pathology +12

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Katrin Will, Thilo Dörk, Manfred Stuhrmann et al. · Journal of Clinical Investigation · 1994 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Geographic distribution and origin of CFTR mutations in Germany

Burkhard Tümmler, T. Storrs, Violetta Dziadek et al. · Human Genetics · 1996 · 23 citations

Life Sciences, Genetics, Molecular Genetics +12

Biliary atresia: which factors predict the success of a Kasai operation? An analysis of 36 patients.

Thierry Lang, Matthias Kappler, H.-G. Dietz et al. · PubMed · 2000 · 16 citations

Medicine, Surgery, Hepatology +5