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Autor:
Fabian Ps Yu, Lucia Lopez-Vasquez, Wolfgang M. Kuebler, Haibo Zhang, Jiří Gurka, Thierry Levade, Mingyao Liu, Shaalee Dworski, Jakub Sikora, Diana Islam, Jeffrey A. Medin
Publikováno v:
American Journal of Physiology-Lung Cellular and Molecular Physiology. 314:L406-L420
Farber disease (FD) is a debilitating lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (ACDase) activity due to mutations in the gene ASAH1. Patients with ACDase deficiency may develop a spectrum of clinical phenotypes. Seve