Morbidity and mortality associated with Farber disease and prospects for therapy

Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed

(2017) Alexander Solyom et al.   MOLECULAR GENETICS AND METABOLISM

Inhibitors of Ceramidases

(2016) Essa M. Saied et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Emerging drugs for the treatment of mucopolysaccharidoses

(2016) Roberto Giugliani et al.   EXPERT OPINION ON EMERGING DRUGS

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

Farber disease: Implications of anti-inflammatory treatment

(2016) John Mitchell et al.   MOLECULAR GENETICS AND METABOLISM

Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency

(2016) H. L. Teoh et al.   PEDIATRICS

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

(2016) Luisa Bonafé et al.   Arthritis & Rheumatology

SAT0493 Farber Disease: First Natural History Cohort Demonstrates a Broad Clinical Spectrum with Implications for Juvenile Idiopathic Arthritis Patients

(2015) A. Solyom et al.   ANNALS OF THE RHEUMATIC DISEASES

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Innovative Treatments for Lysosomal Diseases

(2015) Timothy M. Cox   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

(2015) Guido Rubboli et al.   EPILEPSIA

Markedly perturbed hematopoiesis in acid ceramidase deficient mice

(2015) S. Dworski et al.   HAEMATOLOGICA

Nervous system involvement in Farber disease

(2015) Alberto M. Cappellari et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Markedly perturbed hematopoiesis in acid ceramidase deficient mice

(2015) S. Dworski et al.   HAEMATOLOGICA

Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa

(2014) Y. Pewzner-Jung et al.   EMBO Molecular Medicine

Treatment of lysosomal storage disorders: successes and challenges

(2014) Carla E. M. Hollak et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

(2013) M.D. Bashyam et al.   CLINICAL GENETICS

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

(2013) D.A. Dyment et al.   CLINICAL GENETICS

Systemic ceramide accumulation leads to severe and varied pathological consequences

(2013) Abdulfatah M. Alayoubi et al.   EMBO Molecular Medicine

Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation

(2013) Andrea Jarisch et al.   EUROPEAN JOURNAL OF PEDIATRICS

Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

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

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

(2013) Mariana Q. Alves et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Construction of Conditional Acid Ceramidase Knockout Mice andin vivoEffects on Oocyte Development and Fertility

(2012) Efrat Eliyahu et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

A novel mutation in an atypical presentation of the rare infantile Farber disease

(2011) Fatma Al Jasmi   BRAIN & DEVELOPMENT

Many Ceramides

(2011) Yusuf A. Hannun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Efficacy of Antidepressants as Analgesics: A Review

(2011) Pinky Dharmshaktu et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

(2011) Minke H de Ru et al.   Orphanet Journal of Rare Diseases

Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization

(2009) Efrat Eliyahu et al.   FASEB JOURNAL

Autoproteolytic Cleavage and Activation of Human Acid Ceramidase

(2008) Nataly Shtraizent et al.   JOURNAL OF BIOLOGICAL CHEMISTRY