Marie‐Anne Skomorowski

Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

Barbara L. Triggs‐Raine, Annette S. Feigenbaum, Marvin R. Natowicz et al. · New England Journal of Medicine · 1990 · 122 citations · Full text

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Joe T.R. Clarke, Wenda Greer, Paula M. Strasberg et al. · PubMed · 1991 · 52 citations

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

Millan S. Patel, John W. Callahan, Sunqu Zhang et al. · American Journal of Medical Genetics · 1999 · 45 citations

Automated Assay of Hexosaminidases in Serum

J. A. Lowden, Marie‐Anne Skomorowski, Francis G. Henderson et al. · Clinical Chemistry · 1973 · 45 citations · Full text

Medical Diagnostics, Automated Assay, Molecular Diagnostic Techniques +11

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

M. Elizabeth McCready, Nancy Carson, Pallavi Chakraborty et al. · Molecular Genetics and Metabolism · 2007 · 39 citations

Genetic Disorder, Medicine, Glycogen Storage Disease +7