Results 51 to 60 of about 676 (154)

Elosulfase Alfa Treatment in Morquio A Patients in Iran: A Before and After Study

Iranian Journal of Pediatrics, 2021
Background: Morquio A, an autosomal recessive lysosomal storage disease, is caused by a defect in the enzyme N-acetyl-galactosamine-6-sulfatase. This leads to the accumulation of the glycosaminoglycans chondroitin-6-sulfate (C6S) and keratan sulfate (KS), resulting in various skeletal manifestations, multisystemic impairments, and significant ...
Mohammadreza Alaei, Marjan Shakiba, Hedyeh Saneifard, Ghamartaj Khanbabaee, Mohammadreza Khalilian, Asieh Mosallanejad, Saleheh Tajalli, Mojtaba Lotfi   +7 more
openaire   +2 more sources

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

Enzymatic replacement therapy for lysosomal storage disorders: Drug evaluations review in Spain [PDF]

, 2020
In the European Union companies only need to demonstrate that the risk-benefit balance of the new drug is favourable to obtain the authorization to sell new drugs.
Ascanio, Meritxell, Darbà, Josep
core   +1 more source

Orthopedic management of the extremities in patients with Morquio A syndrome. [PDF]

, 2014
BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature,
Bache, C Edward, Harmatz, Paul R, Jester, Andrea, Mackenzie, William G, Shediac, Renée, Thacker, Mihir M, White, Klane K   +6 more
core   +1 more source

Monitoramento de tecnologia incorporada no SUS e farmacovigilância: Estudo do Alfaelosulfase

Jornal de Assistência Farmacêutica e Farmacoeconomia, 2023
Introdução: O Alfaelosulfase foi incorporado no SUS para doença rara mucopolissacaridose tipo IV A em dezembro de 2018. Um relatório de monitoramento foi publicado pelo Ministério da Saúde em fevereiro de 2022.
Serena Pireneus Oliveira Borges de Pina, Helaine Carneiro Capucho   +1 more
doaj   +1 more source

Pregnancy in patients with mucopolysaccharidosis: a case series

Molecular Genetics and Metabolism Reports, 2016
The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and ...
Fiona J. Stewart, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R. Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Sue Graham, Stephen Sande, Zlatko Sisic, Tracey A. Johnston   +13 more
doaj   +1 more source

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

, 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 ...
?lvarez, V. J., Bravo L?pez, Susana Bel?n, Chantada V?zquez, Mar?a Pilar, Col?n Mejeras, Cristobal, Couce Pico, Mar?a Luz, De Castro L?pez, Mar?a Jos?, Morales, M., Otero Espinar, Francisco, Tomatsu, S., Vitoria, I.   +9 more
core   +4 more sources

Limited data to evaluate real‐world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

Journal of Inherited Metabolic Disease, Volume 42, Issue 5, Page 762-775, September 2019., 2019
Abstract Orphan medicinal products (OMPs) are often authorized based on pivotal phase II and III trials that do not always meet high quality criteria. Laronidase is an example of an OMP used for treatment of mucopolysaccharidosis I (MPS I). One randomized controlled trial demonstrated efficacy on several somatic symptoms.
Gé‐Ann Kuiper, Stephanie C. M. Nijmeijer, Manouck J. M. Roelofs, Johanneke H. van der Lee, Carla E. M. Hollak, Annet M. Bosch   +5 more
wiley   +1 more source

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Diagnostics, 2020
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman   +8 more
doaj   +1 more source

Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review [PDF]

, 2022
Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation management for musculoskeletal pain of the ...
Corrado, B, Giardulli, B, Gnasso, R, Iommazzo, I, Magliulo, G, Migliore, F, Ruosi, C   +6 more
core   +1 more source