Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients-Reference-Cited by-同舟云学术

Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

Published:1985-07 Issue:3 Volume:21 Page:529-549
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Grabowski Gregory A.,Goldblatt Jack,Dinur Tama,Kruse Joanne,Svennerholm Lars,Gatt Shimon,Desnick Robert J.,Opitz John M.,Reynolds James F.

Publisher

Wiley

Subject

Genetics (clinical)

Reference42 articles.

1. Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

2. Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease.

3. (1982) Bone involvement in Gaucher disease. In (eds): “Gaucher Disease: A Century of Delineation and Research.” New York: Alan R. Liss, Inc. pp 107-130.

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

5. (1978) Glucosyl ceramide lipidosis: Gaucher's disease. In (eds): “The Metabolic Basis of Inherited Disease.” New York: McGraw-Hill Book Co., pp 731-746.

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