Cargando…

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and pai...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522391/ https://www.ncbi.nlm.nih.gov/pubmed/28733637 http://dx.doi.org/10.1038/s41598-017-06604-2

Ejemplares similares

Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology
por: Sands, Mark S
Publicado: (2013)

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
por: Cozma, Claudia, et al.
Publicado: (2015)

Classic Farber nudes
por: fFarber, Robert
Publicado: (1991)

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
por: Dinur, Tama, et al.
Publicado: (2022)

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
por: Cozma, Claudia, et al.
Publicado: (2019)

A case of Farber lipogranulomatosis.
por: Kim, Y. J., et al.
Publicado: (1998)

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease
por: Beckmann, Nadine, et al.
Publicado: (2019)

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease
por: Lukas, Jan, et al.
Publicado: (2017)

Farber disease: A clinical diagnosis
por: Ekici, Barış, et al.
Publicado: (2012)

Acid ceramidase deficiency: Farber disease and SMA-PME
por: Yu, Fabian P. S., et al.
Publicado: (2018)

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease
por: Dinur, Tama, et al.
Publicado: (2019)

A new definition of burnout syndrome based on Farber's proposal
por: Montero-Marín, Jesús, et al.
Publicado: (2009)

Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
por: Böttcher, Tobias, et al.
Publicado: (2013)

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
por: Hurvitz, Noa, et al.
Publicado: (2019)

Farber disease: clinical presentation, pathogenesis and a new approach to treatment
por: Ehlert, Karoline, et al.
Publicado: (2007)

Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy
por: Choudhary, Nitin, et al.
Publicado: (2019)

Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
por: Hovakimyan, Marina, et al.
Publicado: (2013)

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
por: Cozma, Claudia, et al.
Publicado: (2020)

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice
por: He, Xingxuan, et al.
Publicado: (2017)

The Impact of COVID-19 on Clinical Trial Execution at the Dana-Farber Cancer Institute
por: Tolaney, Sara M, et al.
Publicado: (2020)

Defects in the retina of Niemann-pick type C 1 mutant mice
por: Yan, Xin, et al.
Publicado: (2014)

Corneal Alterations during Combined Therapy with Cyclodextrin/Allopregnanolone and Miglustat in a Knock-Out Mouse Model of NPC1 Disease
por: Hovakimyan, Marine, et al.
Publicado: (2011)

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
por: Giese, Anne-Katrin, et al.
Publicado: (2015)

Virtual Interviews for the Complex General Surgical Oncology Fellowship: The Dana-Farber/Partners Experience
por: Molina, George, et al.
Publicado: (2020)

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis
por: Moghadam, Soheila Hoseinzadeh, et al.
Publicado: (2019)

Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease
por: Tanislav, Christian, et al.
Publicado: (2016)

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
por: Rolfs, Arndt, et al.
Publicado: (2013)

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
por: Lukas, Jan, et al.
Publicado: (2012)

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation
por: Sólyom, Alexander, et al.
Publicado: (2014)

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature
por: Al-Naimi, Amal, et al.
Publicado: (2022)

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema
por: Iuraşcu, Marius‐Ionuţ, et al.
Publicado: (2023)

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease
por: Seemann, Susanne, et al.
Publicado: (2020)

HAE patient self-sampling for biomarker establishment
por: Förster, Toni M., et al.
Publicado: (2021)

Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
por: Goudie, Catherine, et al.
Publicado: (2019)

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
por: Curado, Filipa, et al.
Publicado: (2023)

Survival of Mexican Children with Acute Lymphoblastic Leukaemia under Treatment with the Protocol from the Dana-Farber Cancer Institute 00-01
por: Jiménez-Hernández, Elva, et al.
Publicado: (2015)

The Use of Hyperbaric Oxygen for the Prevention and Management of Osteoradionecrosis of the Jaw: A Dana‐Farber/Brigham and Women's Cancer Center Multidisciplinary Guideline
por: Sultan, Ahmed, et al.
Publicado: (2017)

Ceramide and Related Molecules in Viral Infections
por: Beckmann, Nadine, et al.
Publicado: (2021)

Erythropoietin and the effect of oxygen during proliferation and differentiation of human neural progenitor cells
por: Giese, Anne-Katrin, et al.
Publicado: (2010)

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
por: Lukas, Jan, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_9pp64sp2sh3tpq842jl4nb3p1o