Results 41 to 50 of about 1,596 (158)
Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. [PDF]
Hum Gene TherMucopolysaccharidosis type IVA (MPS IVA) is an autosomal congenital metabolic lysosomal disease caused by a deficiency of ...
Herreño-Pachón AM +6 more
europepmc +2 more sources
Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).
The Angle orthodontist, 2006 Morquio syndrome (mucopolysaccharidosis type IVA) is an autosomal recessive disorder caused by the accumulation of mucopolysaccharides in lysosomes because of the deficiency of N-acetylgalactosamine-6-sulphate sulphatase. Patients with Morquio syndrome often need orthodontic treatment.
Önçag G., Ertan Erdinç A.M., Cal E.
openaire +3 more sources
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA [PDF]
Molecular Genetics and Metabolism, 2018 Kazuki Sawamoto +2 more
exaly +2 more sources
Nature Communications, 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 ...
Joan Bertolin +18 more
doaj +1 more source
Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism
Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023 Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon +8 more
wiley +1 more source
Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model. [PDF]
Int J Mol Sci, 2019 Mucopolysaccharidosis IVA (MPS IVA) is caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Conventional enzyme replacement therapy (ERT) is approved for MPS IVA.
Sawamoto K, Tomatsu S.
europepmc +3 more sources
Acta Orthopaedica et Traumatologica Turcica, 2020 Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth.
Ali Bulent Baz +3 more
doaj +1 more source
Morquio’s Syndrome: A Case Report of Two Siblings
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 +1 more source
Molecular Genetics and Metabolism Reports, 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal +2 more
doaj +1 more source
BMC Pediatrics, 2021 Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and ...
Zhuhui Ge +6 more
doaj +1 more source