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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 | Index Medicus
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 09/2016, Volume 68, Issue 9, pp. 2323 - 2327
To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. Following clinical... 
Phenotype | Acid Ceramidase - genetics | Farber Lipogranulomatosis - diagnosis | Osteolysis - genetics | Pedigree | Farber Lipogranulomatosis - genetics | Humans | Middle Aged | Adult | Female | Male | Mutation | Enzymes | Rodents | Index Medicus | Abridged Index Medicus
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
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 06/2013, Volume 5, Issue 6, pp. 799 - 801
Journal Article
American Journal of Physiology - Lung Cellular and Molecular Physiology, ISSN 1040-0605, 03/2018, Volume 314, Issue 3, pp. L406 - L420
Journal Article
Brain & Development, ISSN 0387-7604, 2011, Volume 34, Issue 6, pp. 533 - 535
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 01/2009, Volume 26, Issue 1, pp. 44 - 46
Journal Article
AKTUELLE RHEUMATOLOGIE, ISSN 0341-051X, 10/2016, Volume 41, Issue 5, pp. 372 - 376
Farber disease is a disorder of sphingolipid metabolism, resulting from deficiency in the lysosomal enzyme acid ceramidase and the inability of cells to break... 
LIPOGRANULOMATOSIS | INITIATION | Farber | JUVENILE IDIOPATHIC ARTHRITIS | INVOLVEMENT | nodule | RHEUMATOLOGY | DEFICIENCY | arthritis | GENE | children | PATHWAY | MUTATION | contracture | STEM-CELL TRANSPLANTATION
Journal Article
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