Cargando…

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a grow...

Descripción completa

Detalles Bibliográficos
Autores principales:	Álvarez, Víctor J., Bravo, Susana B., Chantada-Vazquez, Maria Pilar, Colón, Cristóbal, De Castro, María J., Morales, Montserrat, Vitoria, Isidro, Tomatsu, Shunji, Otero-Espinar, Francisco J., Couce, María L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795692/ https://www.ncbi.nlm.nih.gov/pubmed/33379360 http://dx.doi.org/10.3390/ijms22010226

Ejemplares similares

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
por: Sawamoto, Kazuki, et al.
Publicado: (2020)

Plasma Proteomic Analysis in Morquio A Disease
por: Álvarez, José V., et al.
Publicado: (2021)

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks
por: Leal, Andrés Felipe, et al.
Publicado: (2023)

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse
por: Rintz, Estera, et al.
Publicado: (2023)

Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA
por: Wang, Zhigang, et al.
Publicado: (2020)

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model
por: Sawamoto, Kazuki, et al.
Publicado: (2019)

Cochlear implantation in a patient with mucopolysaccharidosis IVA
por: Nagao, Kyoko, et al.
Publicado: (2019)

Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems
por: Álvarez, J. Víctor, et al.
Publicado: (2019)

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
por: Chen, Hui, et al.
Publicado: (2021)

Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA()
por: Chinen, Yasutsugu, et al.
Publicado: (2014)

Diagnosing mucopolysaccharidosis IVA
por: Wood, Timothy C., et al.
Publicado: (2013)

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
por: Quijada-Fraile, Pilar, et al.
Publicado: (2021)

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model
por: Sawamoto, Kazuki, et al.
Publicado: (2020)

Role of elosulfase alfa in mucopolysaccharidosis IVA
por: Regier, Debra S, et al.
Publicado: (2016)

Atypical presentation of mucopolysaccharidosis type IVA
por: Rush, Eric T.
Publicado: (2016)

Proteomics in Inherited Metabolic Disorders
por: Chantada-Vázquez, Maria del Pilar, et al.
Publicado: (2022)

Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy
por: Piechnik, Matthew, et al.
Publicado: (2022)

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA
por: Chin, Sharon J., et al.
Publicado: (2020)

Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems
por: Álvarez, J. Víctor, et al.
Publicado: (2019)

Bone mineral density in mucopolysaccharidosis IVB
por: Kubaski, Francyne, et al.
Publicado: (2016)

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
por: Pintos-Morell, Guillem, et al.
Publicado: (2018)

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
por: Lin, Hsiang-Yu, et al.
Publicado: (2014)

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2012)

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
por: Tapiero-Rodriguez, Sandra M, et al.
Publicado: (2018)

Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease
por: Montavon, Brittany, et al.
Publicado: (2022)

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
por: Lee, Yi-Hao, et al.
Publicado: (2023)

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
por: Lee, Na Hee, et al.
Publicado: (2013)

Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case
por: Ganeva, Margarita, et al.
Publicado: (2014)

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
por: Hendriksz, Christian J., et al.
Publicado: (2012)

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
por: Moreno Giraldo, Lina Johanna, et al.
Publicado: (2018)

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
por: Kampmann, Christoph, et al.
Publicado: (2016)

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
por: Lin, Hsiang-Yu, et al.
Publicado: (2018)

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI
por: Tulebayeva, Assel, et al.
Publicado: (2020)

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy
por: Bertolin, Joan, et al.
Publicado: (2021)

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes
por: Politei, Juan, et al.
Publicado: (2021)

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study
por: Colón, Cristóbal, et al.
Publicado: (2017)

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
por: Ficicioglu, Can, et al.
Publicado: (2020)

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts
por: Brokowska, Joanna, et al.
Publicado: (2023)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
por: Solanki, Guirish A., et al.
Publicado: (2013)

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation
por: Suzuki, Yasuyuki, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_o90b18vm9u7kvmoclb2v9uarps