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.

    Cited by: 5|Bibtex|Views2|Links
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    Keywords:
    ceramidaseceramidelung injurylysosomal storage disordersphingolipid

    Abstract:

    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

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