Results 41 to 50 of about 676 (154)
Orphanet Journal of Rare Diseases, 2020 Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden.
Lina Moisan +4 more
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Mucopolysaccharidoses and the Blood-brain Barrier [PDF]
, 2022 Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharidosis, some with various subtypes, based on ...
Goodman, Grant W +4 more
core +2 more sources
Molecular Genetics and Metabolism Reports, 2020 Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the ...
Andrés Felipe Erazo-Narváez +3 more
doaj +1 more source
Mendelian Randomization Identifies the Potential Causal Impact of Dietary Patterns on Circulating Blood Metabolites [PDF]
, 2021 Nutrition plays an important role in the development and progress of several health conditions, but the exact mechanism is often still unclear. Blood metabolites are likely candidates to be mediating these relationships, as their levels are strongly ...
Andres Metspalu +11 more
core +3 more sources
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Consideration of quality of life in the health technology assessments of rare disease treatments [PDF]
, 2021 Objectives Challenges with patient-reported outcome (PRO) evidence and health state utility values (HSUVs) in rare diseases exist due to small, heterogeneous populations, lack of disease knowledge and early onset. To better incorporate quality of life (
Drummond, Michael +5 more
core +1 more source
Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report
Journal of Medical Case Reports, 2021 Background A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies ...
Kento Yamauchi +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2017 Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality.
Rudolf Schrover +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records.
Sebile Kılavuz +8 more
doaj +1 more source
Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y. [PDF]
Pediatr Res, 2015 Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged ≥5 y. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patients.Fifteen Morquio A patients aged
Jones SA +7 more
europepmc +7 more sources