Farber lipogranulomatosis

Definition:

Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.

References:

[1]. Bryce A Heese, et al. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008 Sep;15(3):119-26. [Content Brief]

[2]. David A Wenger, et al. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol. 2003 Mar;60(3):322-8. [Content Brief]

[3]. J Bär, et al. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat. 2001 Mar;17(3):199-209. [Content Brief]

[4]. Jae-Ho Park, et al. Acid ceramidase and human disease. Biochim Biophys Acta. 2006 Dec;1758(12):2133-8. [Content Brief]

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