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1. Full Text Acid ceramidase and human disease
by Park, Jae-Ho and Schuchman, Edward H
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
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2. Full Text Ceramidases, roles in sphingolipid metabolism and in health and disease
by Coant, Nicolas and Sakamoto, Wataru and Mao, Cungui and Hannun, Yusuf A
Advances in Biological Regulation, ISSN 2212-4926, 01/2017, Volume 63, pp. 122 - 131
Over the past three decades, extensive research has been able to determine the biologic functions for the main bioactive sphingolipids, namely ceramide,... 
Cell proliferation | Sphingolipid | Farber's disease | Ceramidase | Sphingosine | Cancer | Gene Expression | Acid Ceramidase - genetics | Neurodegenerative Diseases - pathology | Signal Transduction | Farber Lipogranulomatosis - genetics | Humans | Neoplasms - enzymology | Substrate Specificity | Neurodegenerative Diseases - genetics | Sphingolipids - metabolism | Inflammation | Alkaline Ceramidase - genetics | Alkaline Ceramidase - metabolism | Neutral Ceramidase - genetics | Animals | Neoplasms - genetics | Neutral Ceramidase - metabolism | Farber Lipogranulomatosis - pathology | Kinetics | Neoplasms - pathology | Farber Lipogranulomatosis - enzymology | Acid Ceramidase - metabolism | Hydrogen-Ion Concentration | Neurodegenerative Diseases - enzymology | Phosphates | Physiological aspects | Lipids | Colon cancer | Cell death | Index Medicus | cancer | cell proliferation | Farber’s disease
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3. Retrovirus-mediated Gene Therapy For Farber Disease
by Ramsubir, Shobha
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
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4. Full Text A cross-sectional quantitative analysis of the natural history of Farber disease: An ultra-orphan condition with rheumatologic and neurological cardinal disease features
by Zielonka, Matthias and Garbade, Sven F and Kölker, Stefan and Hoffmann, Georg F and Ries, Markus
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
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5. Full Text Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
by Bonafé, Luisa and Kariminejad, Ariana and Li, Jia and Royer‐Bertrand, Beryl and Garcia, Virginie and Mahdavi, Shokouholsadat and Bozorgmehr, Bita and Lachman, Ralph L and Mittaz‐Crettol, Lauréane and Campos‐Xavier, Belinda and Nampoothiri, Sheela and Unger, Sheila and Rivolta, Carlo and Levade, Thierry and Superti‐Furga, Andrea
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
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6. Full Text Early morphological diagnosis of Farber disease
by Nivaggioni, Vanessa and Cano, Aline and Arnoux, Isabelle and Michel, Gérard and Loosveld, Marie
British Journal of Haematology, ISSN 0007-1048, 10/2016, Volume 175, Issue 2, pp. 189 - 189
HEMATOLOGY | Africa, Northern | Farber Lipogranulomatosis - diagnostic imaging | Acid Ceramidase - genetics | Farber Lipogranulomatosis - diagnosis | Farber Lipogranulomatosis - genetics | Humans | Fatal Outcome | Female | Infant | Sequence Analysis, DNA | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
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7. Full Text Nervous system involvement in Farber disease
by Cappellari, Alberto M and Cappellari, Alberto M and Torcoletti, Marta and Torcoletti, Marta and Triulzi, Fabio and Triulzi, Fabio and Corona, Fabrizia and Corona, Fabrizia
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2016, Volume 39, Issue 1, pp. 149 - 150
A 30 months-old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | MUTATIONS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | TRANSPLANTATION | Farber Lipogranulomatosis - diagnosis | Nervous System - pathology | Humans | Hematopoietic Stem Cell Transplantation - adverse effects | Child, Preschool | Farber Lipogranulomatosis - pathology | Male | Motor Neuron Disease - diagnosis | Motor Neuron Disease - pathology | Neurosciences | Transplantation | Diagnostic imaging | Hematopoietic stem cells
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8. Full Text Pathological manifestations of Farber disease in a new mouse model
by Beckmann, Nadine and Kadow, Stephanie and Schumacher, Fabian and Göthert, Joachim R and Kesper, Stefanie and Draeger, Annette and Schulz-Schaeffer, Walter J and Wang, Jiang and Becker, Jan U and Kramer, Melanie and Kühn, Claudine and Kleuser, Burkhard and Becker, Katrin Anne and Gulbins, Erich and Carpinteiro, Alexander
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
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9. Full Text Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations
by Kim, Soo Yeon and Choi, Sun Ah and Lee, Sangmoon and Lee, Jin Sook and Hong, Che Ry and Lim, Byung Chan and Kang, Hyoung Jin and Kim, Ki Joong and Park, Sung‐Hye and Choi, Murim and Chae, Jong‐Hee
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 3023 - 3027
Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical... 
farber disease | ASAH1 | whole‐exome sequencing | farber lipogranulomatosis | whole-exome sequencing | GENE | LIPOGRANULOMATOSIS | GENETICS & HEREDITY | CERAMIDASE DEFICIENCY | CANCER | Amino Acid Sequence | Acid Ceramidase - genetics | Farber Lipogranulomatosis - genetics | Humans | Genotype | Infant | Exome | Magnetic Resonance Imaging | Phenotype | Farber Lipogranulomatosis - diagnosis | DNA Mutational Analysis | Pedigree | Age of Onset | Alleles | Brain - pathology | Female | High-Throughput Nucleotide Sequencing | Mutation | Infant, Newborn | Amino Acid Substitution | Genetic aspects | Congenital heart disease | Genetic disorders | Heart diseases
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10. Full Text Lysosomal Storage Diseases
by Alroy, Joseph and Lyons, Jeremiah A
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... 
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11. Full Text FARBER DISEASE — DISEASE DESCRIPTION WITH CASE REPORTS
by I. A. Chikova and N. V. Buchinskaya and М. М. Kostik and V. V. Avramenko and O. L. Krasnogorskaya and R. A. Nasirov and T. Levade and V. G. Chasnyk
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
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12. Full Text C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
by Cozma, Claudia and Iuraşcu, Marius-Ionuţ and Eichler, Sabrina and Hovakimyan, Marina and Brandau, Oliver and Zielke, Susanne and Böttcher, Tobias and Giese, Anne-Katrin and Lukas, Jan and Rolfs, Arndt
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 6149 - 13
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the... 
LIQUID-CHROMATOGRAPHY | ACID CERAMIDASE DEFICIENCY | CHAIN FATTY-ACIDS | INSULIN-RESISTANCE | MULTIDISCIPLINARY SCIENCES | JUVENILE IDIOPATHIC ARTHRITIS | BARRIER FUNCTION | SPHINGOLIPIDS | ACCUMULATION | TANDEM MASS-SPECTROMETRY | ELECTROSPRAY-IONIZATION | Acid Ceramidase - genetics | Dried Blood Spot Testing | Farber Lipogranulomatosis - genetics | Humans | Middle Aged | Biomarkers - analysis | Child, Preschool | Infant | Male | Ceramides - analysis | Young Adult | Farber Lipogranulomatosis - diagnosis | Mass Spectrometry | Carrier State - diagnosis | Chromatography, Liquid | Adult | Female | Mutation | Infant, Newborn | Biomarkers | Ceramide | Mass spectroscopy | Liquid chromatography | Diagnosis | Ceramidase | Nodules
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13. Full Text A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease
by Bedia, Carmen and Camacho, Luz and Abad, José Luís and Fabriàs, Gemma and Levade, Thierry
Journal of Lipid Research, ISSN 0022-2275, 12/2010, Volume 51, Issue 12, pp. 3542 - 3547
Acid ceramidase (aCDase) is one of several enzymes responsible for ceramide degradation within mammalian cells. As such, aCDase regulates the intracellular... 
Fluorogenic assay | Diagnosis | Acid ceramidase | Farber disease | ALKALINE CERAMIDASES | ASSAY | SUBCELLULAR-DISTRIBUTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CULTURED SKIN FIBROBLASTS | METACHROMATIC LEUKODYSTROPHY | diagnosis | CEREBROSIDE SULFATE | METABOLISM | SPHINGOMYELIN | PURIFICATION | TISSUES | fluorogenic assay | acid ceramidase | Cell Line, Transformed - virology | Cell Line | Fluorescent Dyes - chemistry | Spectrometry, Fluorescence - methods | Skin - cytology | Acid Ceramidase - analysis | Lymphoid Tissue - virology | Skin - metabolism | Lymphoid Tissue - metabolism | Epstein-Barr Virus Infections - pathology | Lymphoid Tissue - cytology | Animals | Farber Lipogranulomatosis - diagnosis | Farber Lipogranulomatosis - metabolism | Cell Line, Transformed - metabolism | Fibroblasts - cytology | Epstein-Barr Virus Infections - metabolism | Acid Ceramidase - metabolism | Cell Line, Transformed - cytology | Fibroblasts - metabolism | Methods
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14. Full Text Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation
by Jarisch, Andrea and Jarisch, Andrea and Steward, Colin G and Steward, Colin G and Sörensen, Jan and Sörensen, Jan and Porto, Luciana and Porto, Luciana and Kieslich, Matthias and Kieslich, Matthias and Klingebiel, Thomas and Klingebiel, Thomas and Bader, Peter and Bader, Peter
European Journal of Pediatrics, ISSN 0340-6199, 10/2014, Volume 173, Issue 10, pp. 1399 - 1403
Farber disease (FD) is a lysosomal storage disorder caused by accumulation of ceramide in various organs and tissues, most notably the central nervous system,... 
Pediatrics | Medicine & Public Health | Acid ceramidase | Bone involvement | Hematopoietic stem cell transplantation | Farber disease | CERAMIDASE | BONE-MARROW-TRANSPLANTATION | PEDIATRICS | Humans | Adolescent | Hematopoietic Stem Cell Transplantation | Farber Lipogranulomatosis - pathology | Female | Infant | Farber Lipogranulomatosis - complications | Spinal Cord Compression - etiology | Child | Odontoid Process - pathology | Farber Lipogranulomatosis - therapy | Transplantation | Diagnostic imaging | Children's hospitals | Hematopoietic stem cells | Stem cells
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15. Full Text Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy
by Schuchman, Edward H
BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2016, Volume 1862, Issue 9, pp. 1459 - 1471
Ceramides are a diverse group of sphingolipids that play important roles in many biological processes. Acid ceramidase (AC) is one key enzyme that regulates... 
Ceramide | Enzymes | Lysosomal storage diseases | Sphingolipids | Cell signaling | INDUCED APOPTOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEFICIENCY | CELL-DEATH | BIOPHYSICS | SPINAL MUSCULAR-ATROPHY | PROGRESSIVE MYOCLONIC EPILEPSY | MUTATION | AIRWAY EPITHELIUM | FARBER-DISEASE | TUMOR-GROWTH | EXPRESSION | Care and treatment | Physiological aspects | Ceramides | Respiratory tract diseases | Plant lipids | Biopharmaceutics | Medical research | Membrane lipids | Medical colleges | Lung diseases | Epilepsy | Sphingosine | Medicine, Experimental
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16. Full Text Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system
by Chedrawi, Aziza K and Al-Hassnan, Zuhair N and Al-Muhaizea, Muhammad and Colak, Dilek and Al-Younes, Banan and Albakheet, AlBandary and Tulba, Sahar and Kaya, Namik
Brain & Development, ISSN 0387-7604, 2011, Volume 34, Issue 5, pp. 400 - 404
Abstract Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various... 
Neurology | ASAH1 | V97G | Unique phenotype | Farber disease | Novel mutation | GENE | LIPOGRANULOMATOSIS | CLONING | HUMAN ACID CERAMIDASE | DEFICIENCY | CLINICAL NEUROLOGY | Severity of Illness Index | Acid Ceramidase - genetics | Farber Lipogranulomatosis - genetics | Humans | Child, Preschool | Infant | Male | Magnetic Resonance Imaging | Phenotype | Brain - pathology | Farber Lipogranulomatosis - pathology | Female | Siblings | Medical colleges | Neurosciences | Wildlife conservation | Animal behavior | Analysis | Medical genetics | Genetic aspects | Skin | Diagnostic imaging
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17. Full Text Farber disease in infancy resembling juvenile idiopathic arthritis: Identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation
by Torcoletti, Marta and Petaccia, Antonella and Maria Pinto, Rita and Hladnik, Uros and Locatelli, Franco and Agoston, Carlo and Corona, Fabrizia
Rheumatology (United Kingdom), ISSN 1462-0324, 2014, Volume 53, Issue 8, pp. 1533 - 1534
ACID CERAMIDASE | CERAMIDASE DEFICIENCY | RHEUMATOLOGY | BONE-MARROW-TRANSPLANTATION | Diagnosis, Differential | Acid Ceramidase - genetics | Farber Lipogranulomatosis - genetics | Humans | Arthritis, Juvenile - diagnosis | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Arthritis, Juvenile - genetics | Farber Lipogranulomatosis - diagnosis | Farber Lipogranulomatosis - surgery | Mutation
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18. A case report of childhood Farber's disease and literature review
by Bao, X H and Tian, J M and Ji, T Y and Chang, X Z
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
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19. Full Text Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency
by Yu, Fabian P. S and Islam, Diana and Sikora, Jakub and Dworski, Shaalee and Gurka, Jiří and López-Vásquez, Lucía and Liu, Mingyao and Kuebler, Wolfgang M and Levade, Thierry and Zhang, Haibo and Medin, Jeffrey A
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 |