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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2016

Bonafé Luisa, Kariminejad Ariana, Li Jia, Royer-Bertrand Beryl, Garcia Virginie, Mahdavi Shokouholsadat, Bozorgmehr Bita, Lachman Ralph L, Mittaz-Crettol Lauréane, Campos-Xavier Belinda, Nampoothiri Sheela, Unger Sheila, Rivolta Carlo, Levade Thierry, Superti-Furga Andrea

Abstract excerpt

OBJECTIVE: To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. METHODS: Following clinical and radiographic assessment, exome sequencing, targeted gene resequencing, and determination of enzyme activity in cultured fibroblasts were performed. RESULTS: The proband (age 40 years) had a history of episodic fever and pain in...

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Identifiers

PMID: 26945816
DOI: 10.1002/art.39659

Genes

ASAH1
MMP14
MMP2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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