Urszula B. Rüfenacht

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

Urszula B. Rüfenacht, Laurent Gouya, X. Schneider‐Yin et al. · The American Journal of Human Genetics · 1998 · 133 citations · Full text

Iron Metabolism, Genetics, Systematic Analysis +9

Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients

Macé M. Schuurmans, Xiaoye Schneider‐Yin, Urszula B. Rüfenacht et al. · Molecular Medicine · 2001 · 46 citations · Full text

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

Xiaoye Schneider‐Yin, Laurent Gouya, Morna J. Dorsey et al. · Blood · 2000 · 34 citations · Full text

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria

A Gregor, Xiaoye Schneider‐Yin, Urszula Szlendak et al. · Human Mutation · 2002 · 21 citations · Full text

Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

Xiaoye Schneider‐Yin, Martin Hergersberg, David E. Goldgar et al. · Human Heredity · 2002 · 18 citations