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27. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM. Mol Genet Metab; 2018 Feb 28; 123(2):76-84. PubMed ID: 29290526 [Abstract] [Full Text] [Related]
28. Editorial: Therapy in genetic disease. Erbe RW. N Engl J Med; 1974 Nov 07; 291(19):1028-9. PubMed ID: 4213051 [No Abstract] [Full Text] [Related]
35. Cultured skin fibroblasts in storage disorders. An analysis of ultrastructural features. Kamensky E, Philippart M, Cancilla P, Frommes SP. Am J Pathol; 1973 Oct 09; 73(1):59-80. PubMed ID: 4201373 [Abstract] [Full Text] [Related]
36. Basic findings and current developments in sphingolipidoses. Pilz H, Heipertz R, Seidel D. Hum Genet; 1979 Mar 12; 47(2):113-34. PubMed ID: 108196 [Abstract] [Full Text] [Related]
40. Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease. Beutler E, Kuhl W, Matsumoto F, Pangalis G. J Exp Med; 1976 Apr 01; 143(4):975-80. PubMed ID: 3620 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]