Mutations in ARSB in MPS VI patients in India

by Juby Mathew, Sujatha M. Jagadeesh, Meenakshi Bhat, S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Sudha Srinivasan
Published 2015-09-01

Diagnostic difficulties in patients with attenuated form of MPS VI

by Emeryk A, Tylki – Szymańska A, Jurecka A, Opoka – Winiarska V
Published 2011-09-01

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

by Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Published 2019-05-01

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

by Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Published 2020-12-01

Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)

by Johanna Acosta Guio MD, Gustavo AdolfoGiraldo-Ospina MD
Published 2017-07-01

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

by Anirudh J. Ullal, David S. Millington, Deeksha S. Bali
Published 2014-01-01

Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors

by Rita Ferla, Marialuisa Alliegro, Margherita Dell’Anno, Edoardo Nusco, John M. Cullen, Stephanie N. Smith, Tyra G. Wolfsberg, Patricia O’Donnell, Ping Wang, Anh-Dao Nguyen, Randy J. Chandler, Zelin Chen, Shawn M. Burgess, Charles H. Vite, Mark E. Haskins, Charles P. Venditti, Alberto Auricchio
Published 2021-03-01

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients

by Nasrin Malekpour, Rahim Vakili, Tayebeh Hamzehloie
Published 2018-09-01

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

by Villarreal M Solano, Claudia Yazmín Cossío Mandujano, Carmen Amor Avila-Rejon, Victor Hugo Espin, Hector Paul Quintero Montaño
Published 2021-09-01

Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

by Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, Lisbeth Silva, Diogo Ribeiro, Juliana Inês Santos, Maria João Prata, Laura Vilarinho, Sandra Alves
Published 2020-01-01

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children

by Dafne D.G. Horovitz, Angelina Xavier Acosta, Liane de Rosso Giuliani, Erlane Marques Ribeiro
Published 2015-12-01

Análise de mutações no gene arilsulfatase B em pacientes com mucopolissacaridose tipo VI do Brasil : definição de uma possível origem comum em Monte Santo/BA

by Motta, Fabiana Maia Moura Costa
Published 2012

Análise de mutações no gene arilsulfatase B em pacientes com mucopolissacaridose tipo VI do Brasil : definição de uma possível origem comum em Monte Santo/BA

by Motta, Fabiana Maia Moura Costa
Published 2012

Análise de mutações no gene arilsulfatase B em pacientes com mucopolissacaridose tipo VI do Brasil : definição de uma possível origem comum em Monte Santo/BA

by Motta, Fabiana Maia Moura Costa
Published 2012

Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI-Evidence from in vitro and in vivo models.

by Eugeni Entchev, Ingrid Jantzen, Philippe Masson, Stephanie Bocart, Bruno Bournique, Jean-Michel Luccarini, Andre Bouchot, Olivier Lacombe, Jean-Louis Junien, Pierre Broqua, Mireille Tallandier
Published 2020-01-01

Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report

by Ming-Fang He, Ji Yang, Meng-Jie Dong, Yin-Ting Wang, Hai Liu
Published 2021-05-01

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis

by Barbara Zapała, Olaf Chmura, Urszula Ciałowicz, Bogdan Solnica, Magdalena Krajewska-Włodarczyk, Zbigniew Żuber
Published 2020-12-01

Triagem neonatal para mucopolissacaridose tipo VI (Síndrome de Maroteux-Lamy) em uma região com alta incidência da doença

by Bender, Fernanda
Published 2012

Triagem neonatal para mucopolissacaridose tipo VI (Síndrome de Maroteux-Lamy) em uma região com alta incidência da doença

by Bender, Fernanda
Published 2012

Triagem neonatal para mucopolissacaridose tipo VI (Síndrome de Maroteux-Lamy) em uma região com alta incidência da doença

by Bender, Fernanda
Published 2012