Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease. [PDF]
Front Cardiovasc Med, 2022 Cardiovascular disease (CVD) in Mucopolysaccharidosis Type IVA (Morquio A), signified by valvular disease and cardiac hypertrophy, is the second leading cause of death and remains untouched by current therapies.
Montavon B +4 more
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Atypical presentation of mucopolysaccharidosis type IVA. [PDF]
Mol Genet Metab Rep, 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 ...
Rush ET.
europepmc +5 more sources
Delayed diagnosis of mild mucopolysaccharidosis type IVA. [PDF]
BMC Med 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 ...
Yi M, Shen P, Zhang H.
europepmc +4 more sources
Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up. [PDF]
Eur J Case Rep Intern Med, 2023 Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency.
Vergatti A +5 more
europepmc +2 more sources
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy. [PDF]
Nat Commun, 2021 Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Bertolin J +18 more
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Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. [PDF]
Front PediatrTreating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and ...
Arnaboldi SMC +11 more
europepmc +2 more sources
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA. [PDF]
Mol Genet Metab Rep, 2022 Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase, which results in skeletal and connective tissue abnormalities, as well as various non-skeletal manifestations ...
Lee SH, Kim HY, Cho TJ, Kim H, Ko JM.
europepmc +2 more sources
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes. [PDF]
JIMD Rep, 2021 Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase.
Politei J +5 more
europepmc +2 more sources
Morquio’s Syndrome: A Case Report of Two Siblings [PDF]
Case Reports in Dentistry, 2017 Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities.
Sathish Muthukumar Ramalingam +4 more
doaj +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 Res, 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.
Li R +6 more
europepmc +2 more sources