"Pseudodeficiencies" of lysosomal hydrolases.

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

Wolfgang von Scheidt, Christine M. Eng, Thomas Fitzmaurice et al. · New England Journal of Medicine · 1991 · 368 citations · Full text

Medicine, Biochemistry, Cardiology +14

Molecular Basis of Different Forms of Metachromatic Leukodystrophy

Andreas Polten, Arvan L. Fluharty, Claire B. Fluharty et al. · New England Journal of Medicine · 1991 · 298 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Gaucher disease: gene frequencies in the Ashkenazi Jewish population.

Ernest Beutler, N J Nguyen, M W Henneberger et al. · PubMed · 1993 · 233 citations

Life Sciences, Genetics, Molecular Genetics +12

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

V. Gieselmann, Andreas Polten, J Kreysing et al. · Proceedings of the National Academy of Sciences · 1989 · 220 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

Hexosaminidase A deficiency in adults

Ruth Navon, Zohar Argov, Amos Frisch et al. · American Journal of Medical Genetics · 1986 · 114 citations

Life Sciences, Genetics, Molecular Genetics +10