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 · 267 citations

Life Sciences, Clinical Sciences, Enzymology +10

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 · 254 citations

Life Sciences, Biochemistry, Pharmacotherapy +12

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 · 244 citations · Full text

Life Sciences, Biochemistry, Enzymology +15

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

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 234 citations

Medicine, Internal Medicine, Pathology +7