Cargando…

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome

BACKGROUND: Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jester, Sandra, Larsson, Julia, Eklund, Erik A, Papadopoulou, Domniki, Månsson, Jan-Eric, Békássy, Albert N, Turkiewicz, Dominik, Toporski, Jacek, Øra, Ingrid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766644/ https://www.ncbi.nlm.nih.gov/pubmed/24107440 http://dx.doi.org/10.1186/1750-1172-8-134

Ejemplares similares

Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions
por: Brodszki, Nicholas, et al.
Publicado: (2016)

Mucopolysaccharidosis VI
por: Valayannopoulos, Vassili, et al.
Publicado: (2010)

Visual impairment in mucopolysaccharidosis VI
por: Magalhães, Augusto Monteiro, et al.
Publicado: (2023)

Immunologic Control of Disseminated Aichi Virus Infection in X-Linked Agammaglobulinemia by Transplantation of TcRαβ-Depleted Haploidentical Hematopoietic Cells
por: Bekassy, Zivile, et al.
Publicado: (2022)

Diagnostic and treatment strategies in mucopolysaccharidosis VI
por: Vairo, Filippo, et al.
Publicado: (2015)

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI
por: Harmatz, Paul R., et al.
Publicado: (2013)

Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
por: Landen, Michiel, et al.
Publicado: (2021)

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
por: Voskoboeva, Elena, et al.
Publicado: (2022)

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
por: D’Avanzo, Francesca, et al.
Publicado: (2021)

Mucopolysaccharidosis Type VI with Recurrent Chest Infection
por: Numan, Ashraf, et al.
Publicado: (2023)

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing
por: Lyons, Leslie A., et al.
Publicado: (2016)

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
por: Giugliani, Roberto, et al.
Publicado: (2010)

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
por: Brands, Marion M, et al.
Publicado: (2013)

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
por: Karir, Aneesh, et al.
Publicado: (2018)

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics
por: Tebani, Abdellah, et al.
Publicado: (2019)

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis
por: Zapała, Barbara, et al.
Publicado: (2020)

Advances in haploidentical stem cell transplantation
por: Bayraktar, Ulas Darda, et al.
Publicado: (2011)

Overview of the progress on haploidentical hematopoietic transplantation
por: Farhadfar, Nosha, et al.
Publicado: (2016)

The Evolution of T Cell Depleted Haploidentical Transplantation
por: Aversa, Franco, et al.
Publicado: (2019)

Review of Haploidentical Hematopoietic Cell Transplantation
por: Khan, Mehreen A., et al.
Publicado: (2018)

Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center
por: Mendoza-Ruvalcaba, Sandra del Carmen, et al.
Publicado: (2020)

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
por: Pachajoa, Harry, et al.
Publicado: (2014)

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)
por: Giraldo, Gustavo Adolfo, et al.
Publicado: (2015)

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

Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI—Evidence from in vitro and in vivo models
por: Entchev, Eugeni, et al.
Publicado: (2020)

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
por: Brands, Marion M. M. G., et al.
Publicado: (2012)

Haploidentical Hematopoietic Stem-Cell Transplantation in Adults
por: Alshemmari, Salem, et al.
Publicado: (2011)

T cell depleted haploidentical transplantation: positive selection
por: Aversa, Franco
Publicado: (2011)

Strategies in Haploidentical Stem Cell Transplantation in Adults
por: Bayraktar, Ulaş D., et al.
Publicado: (2013)

Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations
por: Bansal, Abhishek, et al.
Publicado: (2012)

Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia
por: Rosselli, Diego, et al.
Publicado: (2013)

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
por: Uttarilli, Anusha, et al.
Publicado: (2015)

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
por: Saccone, Paola, et al.
Publicado: (2014)

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model—An Experimental and Computational Approach
por: Guevara-Morales, Johana M., et al.
Publicado: (2020)

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI
por: Yavuz, Ozlem Ozkale, et al.
Publicado: (2022)

Epidemiology of infections following haploidentical peripheral blood hematopoietic cell transplantation
por: Slade, Michael, et al.
Publicado: (2016)

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential
por: Gomes, Bruno Duarte, et al.
Publicado: (2012)

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme(®)) therapy
por: Braunlin, E., et al.
Publicado: (2012)

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI
por: Bartolomeo, Rosa, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_hj6ble3ar023adkrgkn81uc7di