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Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]
, 2020 Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L. +6 more
core +2 more sources
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 +1 more source
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. [PDF]
PLoS ONE, 2015 Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-
Claudia Cozma +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological ...
Ya-Ting Jan +6 more
doaj +1 more source
Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt
Heliyon, 2021 Background: Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD).
Ekram Fateen +4 more
doaj +1 more source
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
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 +1 more source
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
Diagnostics, 2020 Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska +3 more
doaj +1 more source
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]
Korean Journal of Pediatrics, 2012 PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee +7 more
doaj +1 more source
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA [PDF]
, 2021 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 ...
Bravo López, Susana Belén +9 more
core +4 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). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 of the GALNS gene.
Dieter, Tatiana +4 more
openaire +4 more sources