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BBA - Biomembranes, ISSN 0005-2736, 2006, Volume 1758, Issue 12, pp. 2133 - 2138
Acid ceramidase ( -acylsphingosine deacylase, EC 3.5.1.23; AC) is the lipid hydrolase responsible for the degradation of ceramide into sphingosine and free... 
Ceramide | Acid ceramidase | Farber disease | Apoptosis | Cancer | MUTATION ANALYSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | STRESS-INDUCED APOPTOSIS | apoptosis | IDENTIFICATION | DEFICIENCY | CELL-DEATH | ceramide | BIOPHYSICS | SPHINGOMYELINASE GENE | PROSTATE-CANCER | FARBER-DISEASE | cancer | OVEREXPRESSION PREVENTS | TUMOR-GROWTH | acid ceramidase | Enzymes
Journal Article
06/2008
Farber disease is a rare lysosomal storage disease (LSD) caused by a deficiency of acid ceramidase (AC). Patients show a classic triad of symptoms including... 
Retrovirus | 0786 | Gene Therapy | Farber Disease | Lysosomal Storage Disease
Dissertation
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 5, pp. 524 - 530
Purpose: Farber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal... 
drug development | orphan disease | disseminated lipogranulomatosis | natural history | Farber disease | GENETICS & HEREDITY | HUMAN ACID CERAMIDASE | STEM-CELL TRANSPLANTATION | IDENTIFICATION | ENZYME REPLACEMENT THERAPY | DEFICIENCY | Enzymes
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 09/2016, Volume 68, Issue 9, pp. 2323 - 2327
Objective To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. Methods... 
Phenotype | Acid Ceramidase - genetics | Farber Lipogranulomatosis - diagnosis | Osteolysis - genetics | Pedigree | Farber Lipogranulomatosis - genetics | Humans | Middle Aged | Adult | Female | Male | Mutation | Enzymes | Rodents
Journal Article
Biological Chemistry, ISSN 1431-6730, 09/2018, Volume 399, Issue 10, pp. 1183 - 1202
Farber disease (FD) is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments are... 
ceramide | lysosomal storage disorders | acid ceramidase | Farber disease | DIAGNOSIS | CELLS | ACID CERAMIDASE DEFICIENCY | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MYOCLONIC EPILEPSY | SPINAL MUSCULAR-ATROPHY | GENE | SPHINGOMYELINASE | ACCUMULATION | MUTATIONS
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2214-6490, 3/2014, Volume 2, Issue 1-2, p. 1
Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular... 
Journal Article
Voprosy Sovremennoj Pediatrii, ISSN 1682-5527, 12/2014, Volume 13, Issue 6, pp. 78 - 84
Farber disease (lipogranulomatosis, OMIM 228000) — is extremely rare autosomal-recessive disorder from group of lysosomal storage disorders, due to deficiency... 
ceramide | children | granulomas | Farber disease | acid ceramidase
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2016, Volume 1862, Issue 9, pp. 1459 - 1471
Journal Article
Zhonghua er ke za zhi = Chinese journal of pediatrics, ISSN 0578-1310, 01/2017, Volume 55, Issue 1, p. 54
To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. The clinical information of a... 
Magnetic Resonance Imaging | Exons | Farber Lipogranulomatosis - genetics | Humans | Evoked Potentials, Visual | Child, Preschool | Female | Acid Ceramidase | Electroencephalography | Skin | Mutation
Journal Article
American Journal of Physiology - Lung Cellular and Molecular Physiology, ISSN 1040-0605, 03/2018, Volume 314, Issue 3, pp. L406 - L420
Farber disease (FD) is a debilitating lysosomal storage disorder (LSD) caused by a deficiency of acid ceramidase (ACDase) activity due to mutations in the gene... 
NIEMANN-PICK-DISEASE | PLASMA-PROTEINS | PHYSIOLOGY | ALVEOLAR PROTEINOSIS |