Fabry’s disease in children
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pathology and Forensic Medicine
Link
https://link.springer.com/content/pdf/10.1007/BF02889588.pdf
Reference30 articles.
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3. Brady, R. O., A. E. Gal, R. M. Bradley, E. Mårtensson, A. L. Warshaw, andL. Laster: Enzymatic defect in Pabry’s disease. Ceramidetrihexosidase dificiency. New Engl. J. Med.276, 1163–1167 (1967).
4. Edgar, G. W. F., andP. J. J. Post: Amaurotic idiocy and epilespy. Epilepsia4, 241–260 (1963).
5. Fabry, J.: Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch. Derm. Syph. (Berl.)43, 187–200 (1898).
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3. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy;Journal of Inherited Metabolic Disease;2008-07-27
4. Ultrastructural and Biochemical Liver Analyses in Fabry's Disease;Hepatology;2007-09-21
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