Eugen Mengel

The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy

Catharina Whybra, Christoph Kampmann, Frank Krummenauer et al. · Clinical Genetics · 2004 · 258 citations

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

S. Strothotte, N. Strigl‐Pill, Birgit Grunert et al. · Journal of Neurology · 2009 · 249 citations

Observational Clinical Trial, Enzyme Replacement Therapy, Inherited Metabolic Disease +4

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 238 citations · Full text

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 233 citations

Vitamin Nutrition, Genetic Disorder, Genetics +10

Recommendations on the diagnosis and management of Niemann-Pick disease type C

J. E. Wraith, Matthias R. Baumgartner, Bruno Bembi et al. · Molecular Genetics and Metabolism · 2009 · 232 citations

Urology, Medicine, Inherited Metabolic Disease +4