Marie‐Anne Skomorowski

Author

Also Known As

M A Skomorowski, M. A. Skomorowski, M.A. Skomorowski, Marie-Anne Skomorowski, Marie-Anne Skomorowski,, Marie‐Anne Skomorowski

Publications

645

Citations

H-Index

Concepts

All Affiliations

Hospital for Sick Children University of Toronto SickKids Foundation McMaster University

About

Marie‐Anne Skomorowski is an author at Hospital for Sick Children specializing in medicine, pathology, and pathogenesis.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	244
2	Public Health	2	2	43
3	Biochemistry	2	2	55
4	Epidemiology	2	2	43
5	Medical Laboratory Science	2	2	56

Marie‐Anne Skomorowski

Publications

603

Citations

H-Index

Page 1

	Year	Citations
Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews Barbara L. Triggs‐Raine, Annette S. Feigenbaum, Marvin R. Natowicz, New England Journal of Medicine	1990	122
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, PubMed	1991	52
Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up Millan S. Patel, John W. Callahan, Sunqu Zhang, American Journal of Medical Genetics	1999	45
Automated Assay of Hexosaminidases in Serum J. A. Lowden, Marie‐Anne Skomorowski, Francis G. Henderson, Clinical Chemistry Medical DiagnosticsAutomated AssayMolecular Diagnostic TechniquesMedicinePathogenesis	1973	45
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, Molecular Genetics and Metabolism Genetic DisorderMedicineGlycogen Storage DiseaseInherited Metabolic DiseaseGenetic Epidemiology	2007	39
Carrier detection in Sandhoff disease. J. A. Lowden, Edward Ives, D. L. Keene, PubMed	1978	38
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy J. T. R. Clarke, Marie‐Anne Skomorowski, Patricia L. Chang American Journal of Medical Genetics	1989	36
HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease Paula M. Strasberg, Irene Warren, Marie‐Anne Skomorowski, Clinica Chimica Acta BiochemistryNeutral GlycolipidsBioanalysisHematologyGlycobiology	1983	32
Screening for carriers of Tay-Sachs disease: A community project. J. A. Lowden, S. Zuker, Alan J. Wilensky, PubMed Medical DiagnosticsSerum Hexosaminidase ActivityEpidemiologyAutoimmune DiseaseDisease Mechanism	1974	32
Type 2 GM <sub>1</sub> gangliosidosis with long survival and neuronal ceroid lipofuscinosis J. A. Lowden, John W. Callahan, R A Gravel, Neurology	1981	28

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