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Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain
Molecular Genetics and Metabolism, 2012 Mucopolysaccharidosis type IVA (Morquio A) is an inherited metabolic disease with autosomal recessive inheritance. The pathology is due to a deficient activity of N-acetylgalactosamine-6-sulfate-sulfatase, which is involved in the degradation of keratan sulfate and chondroitin-6-sulfate.
Maria L Couce +2 more
exaly +7 more sources
Some of the next articles are maybe not open access.
Role of elosulfase alfa in mucopolysaccharidosis IVA [PDF]
The Application of Clinical Genetics, 2016 Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj +9 more sources
Pain management challenges in a patient with mucopolysaccharidosis IVA [PDF]
Clinical Case ReportsKey Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations.
Marcus Gurgius +2 more
doaj +5 more sources
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks [PDF]
International Journal of Molecular Sciences, 2023 Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients.
Andres Felipe Leal +2 more
exaly +7 more sources
Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice [PDF]
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complications.
Andrés Felipe Leal +5 more
doaj +5 more sources
Cochlear implantation in a patient with mucopolysaccharidosis IVA [PDF]
SAGE Open Medical Case Reports, 2019 Mucopolysaccharidosis IVA (OMIM 253000; also known as Morquio A syndrome) is associated with skeletal, airway, and hearing abnormalities. Cochlear implantation is an effective intervention for patients with severe-to-profound hearing loss.
Kyoko Nagao +7 more
doaj +4 more sources
Atypical presentation of mucopolysaccharidosis type IVA
Molecular Genetics and Metabolism Reports, 2016 A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age ...
Eric T. Rush
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Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA [PDF]
Diagnostics, 2020 Patients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective ...
Zhigang Wang +5 more
doaj +5 more sources
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +4 more sources