Mutation analysis of 28 Gaucher disease patients: The Australasian experience-Reference-Cited by-同舟云学术

Mutation analysis of 28 Gaucher disease patients: The Australasian experience

Published:1994-01-15 Issue:2 Volume:49 Page:218-223
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lewis Barry D.,Nelson Paul V.,Robertson Evelyn F.,Morris C. Phillip

Publisher

Wiley

Subject

Genetics(clinical)

Reference27 articles.

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

2. Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease

3. Gaucher disease: new molecular approaches to diagnosis and treatment

4. Mutation analysis in gaucher disease

5. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

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