Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]
Int J Mol Sci, 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.
Sawamoto K +6 more
europepmc +7 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
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
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 +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
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 +2 more sources
Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA [PDF]
Current Issues in Molecular BiologyMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and ...
Shaukat A. Khan +5 more
doaj +2 more sources
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. [PDF]
Orphanet J Rare Dis, 2021 Elosulfasa alfa; Qualitat de vida relacionada amb la salut; Síndrome de Morquio AElosulfasa alfa; Calidad de vida relacionada con la salud; Síndrome de Morquio AElosulfase alfa; Health-related quality of life; Morquio A syndromeBackground ...
Quijada-Fraile P +15 more
europepmc +3 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