Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency
American journal of physiology. Lung cellular and molecular physiology, 2017, Pages ajplung.00223.2017-ajplung.00223.2017.
ceramidaseceramidelung injurylysosomal storage disordersphingolipid
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. Severe cases of FD are frequently associated with neurological involvement, failure to thrive,...More
Full Text (Upload PDF)