Results 21 to 30 of about 3,483 (174)
Orphanet Journal of Rare Diseases, 2022 Background Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation management for musculoskeletal pain of ...
R. Gnasso +6 more
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Biomedicines, 2023 Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated.
Sofia Carvalho +8 more
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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
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Biomolecules, 2023 Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected
Francesca D’Avanzo +6 more
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Overview of the mucopolysaccharidoses [PDF]
Rheumatology, 2011 The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders.
openaire +2 more sources
Epidemiology of mucopolysaccharidoses [PDF]
Molecular Genetics and Metabolism, 2017 The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births.
Shaukat A. Khan +11 more
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A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
Molecular Genetics and Metabolism Reports, 2018 Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU ...
Jyotsna Singh +10 more
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Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)
Reports, 2022 Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with a deficiency of alpha-L iduronidase, which causes a lack of catabolism of glycosaminoglycans (GAGs).
Mattia Di Bartolomeo +10 more
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Therapy for the mucopolysaccharidoses [PDF]
Rheumatology, 2011 Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders.
Vassili, Valayannopoulos +1 more
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The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses
Case Reports in Pediatrics, 2017 Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs).
Sabrina Congedi +4 more
doaj +1 more source