Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region-Reference-Cited by-同舟云学术

Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region

Published:1991-12-15 Issue:4 Volume:41 Page:469-474
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Choy Francis Y. M.,Woo Mary,Der Kaloustian Vazken M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference28 articles.

1. : (1989): Glucosylceramide lipidosis: Gaucher disease. In (eds): “The Metabolic Basis of Inherited Disease,” 6th ed. New York: McGraw-Hill, pp 1677-1698.

2. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

3. : (1983): Glucosylceramide lipidosis: Gaucher disease. In (eds): “The Metabolic Basis of Inherited Disease,” 5th ed. New York: McGraw-Hill, pp 842-856.

4. Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease

5. Gaucher disease: The effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts

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1. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population;Clinical Genetics;2008-06-28

2. Characterization of neuronopathic Gaucher disease among ethnic Poles;Genetics in Medicine;2006-01

3. Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.;Journal of Medical Genetics;1997-01-01

4. Lysosomal storage diseases;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;1995-04

5. Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease;Human Mutation;1995