Results 51 to 60 of about 2,254 (171)

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]

, 2019
Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen, Chen, Chao-Yin, Cimms, Tricia, Haller, Christine, Harmatz, Paul, Song, Wenjie, Wang, Raymond Y, Whitley, Chester B   +7 more
core   +1 more source

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Педиатрическая фармакология, 2022
Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy ...
Yulia P. Semschikova, Yurii A. Kozlov, Andrei B. Yakovlev, Vera M. Shinkareva, Tatyana V. Barzunova, Natalia I. Manjkova, Evgenii A. Balakirev   +6 more
doaj   +1 more source

Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate.
Guilherme Baldo PhD, Fabiano Poswar MD, Andressa Federhen MSc, Camila Bittar MD, Rejane Gus PhD, Fernanda Bender MSc, Roberto Giugliani MD, PhD   +6 more
doaj   +1 more source

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]

PLoS ONE, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis, Michel Vellard   +7 more
doaj   +1 more source

Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

Вопросы современной педиатрии, 2023
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase.
Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Volha Ya. Smirnova, Grigorii V. Revunenkov   +4 more
doaj   +1 more source

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I, Burton, Barbara K, Genter, Fred, Harmatz, Paul, Jones, Simon A, Lau, Heather, Lewis, Gregory D, Mitchell, John J, Muschol, Nicole, Pastores, Gregory M, Shaywitz, Adam J, Sparkes, Rebecca, Sutton, V Reid, Tarnopolsky, Mark, Treadwell, Marsha   +14 more
core   +1 more source

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA [PDF]

International Journal of Molecular Sciences, 2020
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 growth imbalance.
Víctor J. Álvarez, Susana B. Bravo, Maria Pilar Chantada-Vazquez, Cristóbal Colón, María J. De Castro, Montserrat Morales, Isidro Vitoria, Shunji Tomatsu, Francisco J. Otero-Espinar, María L. Couce   +9 more
openaire   +5 more sources

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +3 more sources

Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)

Genetics and Molecular Biology, 2007
Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Tatiana Dieter, Ursula da Silveira Matte, Ida Vanessa Schwartz, Shunji Tomatsu, Roberto Giugliani   +4 more
doaj   +1 more source

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources