European Journal of Case Reports in Internal Medicine, 2023 Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency.
Anita Vergatti +5 more
doaj +2 more sources
A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring [PDF]
Clinical Medicine Insights: Case Reports, 2021 Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births.
Eric Goldman +3 more
doaj +2 more sources
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait.
Hui Chen +5 more
doaj +2 more sources
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. [PDF]
Mol Genet Metab, 2013 Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Hendriksz CJ +8 more
europepmc +8 more sources
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 +9 more
core +9 more sources
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome [PDF]
BMC Genomics, 2022 Background Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene.
Harsh Sheth +6 more
doaj +2 more sources
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) [PDF]
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 +4 more
doaj +2 more sources
Stem Cell ResearchMucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with ...
Federica Feo +10 more
doaj +2 more sources
Delayed diagnosis of mild mucopolysaccharidosis type IVA
BMC Medical GenomicsBackground Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal ...
Mengni Yi, Pinquan Shen, Huiwen Zhang
doaj +3 more sources
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 +2 more sources