Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance [PDF]
Orphanet Journal of Rare Diseases, 2019 Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Tord D Alden +2 more
exaly +18 more sources
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype [PDF]
Case Reports in Medicine, 2013 Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo +7 more
doaj +8 more sources
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries [PDF]
Molecular Genetics and Metabolism Reports, 2021 Background: There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA ...
Villarreal M Solano +4 more
exaly +4 more sources
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene [PDF]
Stem Cell Research, 2019 Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner.
Rong Li +6 more
doaj +5 more sources
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA. [PDF]
Orphanet J Rare Dis, 2022 Abstract BackgroundPatients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused materials, we present a directed approach for mucopolysaccharidosis (MPS) VI and MPS IVA, a pair of rare ...
Bruce IA +7 more
europepmc +11 more sources
Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice [PDF]
Molecular Therapy - Nucleic AcidsMucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Shunji Tomatsu +2 more
exaly +4 more sources
Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk [PDF]
Scientific ReportsMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes.
Andrés Felipe Leal +3 more
doaj +3 more sources
Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time [PDF]
Genetics in Medicine OpenTo assess the real-world effectiveness of enzyme replacement therapy (ERT; elosulfase alfa) on endurance in the treatment of mucopolysaccharidosis type IVA (MPS IVA) using cross-sectional data.The 6-minute walk test (6MWT) distances of ERT-treated and untreated participants from the Morquio A Registry Study and Morquio A Clinical Assessment Program ...
Karolina M Stepien +2 more
exaly +5 more sources
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia. [PDF]
Orphanet J Rare DisAbstractBackgroundMucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating clinical manifestations. These conditions are thought to have higher-than-average prevalence
AlSayed M +6 more
europepmc +4 more sources
A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation [PDF]
Journal of Orthopaedic Surgery and ResearchStudy design Retrospective Study. Objective Type IVA mucopolysaccharidosis (MPS) is often associated with atlantoaxial deformity, and lacks a unified surgical treatment standard or classification system.
Qiu-Qi Zhang +7 more
doaj +2 more sources