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

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

(2015) Joanna J. Gan et al.   NEUROMUSCULAR DISORDERS

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

(2015) Beryl Royer-Bertrand et al.   Scientific Reports

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation

(2014) M. Torcoletti et al.   RHEUMATOLOGY

Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology

(2013) Mark S. Sands   EMBO Molecular Medicine

Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

(2013) Mikhail M. Kostik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease

(2010) Carmen Bedia et al.   JOURNAL OF LIPID RESEARCH