Cargando…

The Influence of Genetic Variability and Proinflammatory Status on the Development of Bone Disease in Patients with Gaucher Disease

Gaucher disease, the most common lysosomal storage disorder, is caused by β-glucocerebrosidase deficiency. Bone complications are the major cause of morbidity in patients with type 1 Gaucher disease (GD1). Genetic components strongly influence bone remodelling. In addition, chronic inflammation prod...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gervas-Arruga, Javier, Cebolla, Jorge Javier, de Blas, Ignacio, Roca, Mercedes, Pocovi, Miguel, Giraldo, Pilar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433334/ https://www.ncbi.nlm.nih.gov/pubmed/25978039 http://dx.doi.org/10.1371/journal.pone.0126153

Ejemplares similares

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene
por: Gervas-Arruga, Javier, et al.
Publicado: (2015)

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease
por: Roca-Espiau, Mercedes, et al.
Publicado: (2019)

Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
por: Andrade-Campos, Marcio M., et al.
Publicado: (2020)

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
por: Giraldo, Pilar, et al.
Publicado: (2012)

Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease
por: Valero-Tena, Esther, et al.
Publicado: (2023)

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
por: Andrade-Campos, Marcio, et al.
Publicado: (2017)

Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease
por: Giraldo, Pilar, et al.
Publicado: (2021)

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study
por: De Castro-Orós, Isabel, et al.
Publicado: (2017)

Gaucher disease – bone involvement
por: Chis, Bogdan Augustin, et al.
Publicado: (2021)

Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse
por: Hong, Young Bin, et al.
Publicado: (2006)

An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy
por: Gómez, Jessica, et al.
Publicado: (2023)

Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson’s Disease
por: López de Frutos, Laura, et al.
Publicado: (2022)

Gaucher Disease and Gaucher Cells
por: Gözdaşoğlu, Sevgi
Publicado: (2015)

P1540: STUDY OF MIRNA EXPRESSION PROFILES IN GAUCHER PATIENTS AND THEIR RELATIONSHIP WITH THE SEVERITY OF BONE INVOLVEMENT
por: Serrano-Gonzalo, I., et al.
Publicado: (2022)

Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey
por: Giraldo, Pilar, et al.
Publicado: (2022)

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)
por: Zimran, Ari, et al.
Publicado: (2017)

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
por: Furderer, Makaila L., et al.
Publicado: (2022)

Gaucher Disease in Bone: From Pathophysiology to Practice
por: Hughes, Derralynn, et al.
Publicado: (2019)

Biofabrication of an in-vitro bone model for Gaucher disease
por: Banerjee, Dishary, et al.
Publicado: (2023)

The cognitive profile of type 1 Gaucher disease patients
por: Biegstraaten, Marieke, et al.
Publicado: (2012)

Gaucher's disease
por: Bohra, Vijay, et al.
Publicado: (2011)

Gaucher’s Disease
Publicado: (1916)

Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)
por: Hughes, Derralynn A., et al.
Publicado: (2022)

Gaucher disease protects against tuberculosis
por: Fan, Jingwen, et al.
Publicado: (2023)

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
por: Louw, Vernon Johan, et al.
Publicado: (2023)

Gaucher Disease and the Synucleinopathies
por: Hruska, Kathleen S., et al.
Publicado: (2006)

Gaucher disease: an update
por: Dumitrascu, Dan L.
Publicado: (2021)

Gaucher Disease for Hematologists
por: Özdemir, Gül Nihal, et al.
Publicado: (2022)

Parkinson disease in Gaucher disease
por: Rodriguez-Porcel, Federico, et al.
Publicado: (2017)

PB2551: GAUCHER DISEASE CURRICULUM: INCORPORATING GAUCHER DISEASE IN THE FIELD OF HEMATOLOGY
por: Symeonidis, Argiris, et al.
Publicado: (2023)

Bone turnover markers in patients with type 1 Gaucher disease
por: Giuffrida, Gaetano, et al.
Publicado: (2012)

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
por: Mucci, Juan Marcos, et al.
Publicado: (2015)

Bone marrow adipocytes alteration in an in vitro model of Gaucher Disease
por: Crivaro, A., et al.
Publicado: (2023)

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
por: Mehta, Atul, et al.
Publicado: (2019)

Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures
por: Rim, John Hoon, et al.
Publicado: (2016)

New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I
por: Esteban, Olivia, et al.
Publicado: (2021)

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously
por: Noya, MSoledad, et al.
Publicado: (2018)

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
por: Rosenbloom, Barry E., et al.
Publicado: (2022)

Enzyme Replacement in Gaucher Disease
por: Beutler, Ernest
Publicado: (2004)

Gaucher's disease with uncommon presentations
por: Gupta, Sanjay Sen, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_pdqgi3rb6hm66kreo1m0vvbf4p