标题
Morbidity and mortality associated with Farber disease and prospects for therapy
作者
关键词
-
出版物
Expert Opinion on Orphan Drugs
Volume 5, Issue 9, Pages 717-726
出版商
Informa UK Limited
发表日期
2017-07-26
DOI
10.1080/21678707.2017.1359086
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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