Literature DB >> 4194474

Detection of Gaucher's disease and its carrier state from fibroblast cultures.

E Beutler, W Kuhl, F Trinidad, R Teplitz, H Nadler.   

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Year:  1970        PMID： 4194474     DOI： 10.1016/s0140-6736(70)92907-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  3 in total

1.  Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

Authors:  E Beutler; W Kuhl; F Trinidad; R Teplitz; H Nadler
Journal:  Am J Hum Genet       Date:  1971-01       Impact factor: 11.025

2.  Isofagomine induced stabilization of glucocerebrosidase.

Authors:  Gregory J Kornhaber; Michael B Tropak; Gustavo H Maegawa; Steven J Tuske; Stephen J Coales; Don J Mahuran; Yoshitomo Hamuro
Journal:  Chembiochem       Date:  2008-11-03       Impact factor: 3.164

3.  Assessment of cellular cobalamin metabolism in Gaucher disease.

Authors:  Suelen Porto Basgalupp; Marina Siebert; Charles Ferreira; Sidney Behringer; Ute Spiekerkoetter; Luciana Hannibal; Ida Vanessa Doederlein Schwartz
Journal:  BMC Med Genet       Date:  2020-01-13       Impact factor: 2.103
  3 in total

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