Downregulation of Lysosomal Acid Ceramidase Mediates HMGB1-Induced Migration and Proliferation of Mouse Coronary Arterial Myocytes

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Farber's disease (lysosomal acid ceramidase deficiency).

The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.

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ژورنال

عنوان ژورنال: Frontiers in Cell and Developmental Biology

سال: 2020

ISSN: 2296-634X

DOI: 10.3389/fcell.2020.00111