Evidence for the deficiency of ?-glucosidase-activating factor in fibroblasts of patients with I-cell disease-Reference-Cited by-同舟云学术

Evidence for the deficiency of ?-glucosidase-activating factor in fibroblasts of patients with I-cell disease

Published:1982 Issue:1 Volume:62 Page:66-69
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Varon Raymonda,Kleijer Willem J.,Thompson Emrah J.,d'Azzo Alessandra

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00295605.pdf

Reference25 articles.

1. d'Azzo A, Halley DJJ, Hoogeveen A, Galjaard H (1980) Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts. Am J Hum Genet 32:519?528

2. Berent SL, Radin NS (1981) Mechanism of activation of glucocerebrosidase by co-?-glucosidase (glucosidase activator protein). Biochim Biophys Acta 664:572?582

3. Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of glucocerebrosides: II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 18:221?225

4. Christomanou H (1980) Niemann-Pick disease, type C: Evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. Hoppe-Seyler's Z Physiol Chem 361:1489?1502

5. Den Tandt WR, Lassila E, Philippart M (1974) Leroy's I-cell disease: Markedly increased activity of plasma acid hydrolases. J Lab Clin Med 83:403?408

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