Results 21 to 30 of about 1,965 (163)
Genome editing for mucopolysaccharidoses
, 2020 Genome editing holds the promise of one-o and potentially curative therapies for many patients with genetic diseases. This is especially true for patients a ected by mucopolysaccharidoses as the disease pathophysiology is amenable to correction using ...
Gomez-Ospina, Natalia +2 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2018 Background Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median nerve compression.
Kim Maincent +3 more
doaj +1 more source
Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review [PDF]
Journal of Pediatrics Review, 2023 Background: There is an association between treatment options and growth in patients with mucopolysaccharidoses (MPS). The appropriate management of MPS is an essential factor for the growth of the patients.
Seyed Ebrahim Tabatabayipoor +6 more
doaj
Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments
Вопросы современной педиатрии, 2015 Mucopolysaccharidoses are a group of hereditary metabolic diseases, relating to lysosomal storage disorders and caused by a deficiencyof the enzymes, involved in degradation of glycosaminoglycans (mucopolysaccharides).
L. A. Osipova +5 more
doaj +1 more source
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
doaj +1 more source
ENT and mucopolysaccharidoses [PDF]
Italian Journal of Pediatrics, 2018 The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death.
Pier Marco Bianchi +2 more
openaire +3 more sources
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
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
doaj +1 more source
Mucopolysaccharidoses : quand y penser ?
, 2020 International audienceLes mucopolysaccharidoses sont des maladies de surcharge lysosomales, secondaires à l'accumulation de mucopolysaccharides. La mucopolysaccharidose de type 1 est la plus fréquente et touche entre 0,69 et 1,66 nouveau-né sur 100 000 ...
Belmatoug, N. +6 more
core +1 more source
Genistein: a natural isoflavone with a potential for treatment of genetic diseases [PDF]
, 2010 Genistein [4 ,5,7-trihydroxyisoflavone or 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one] is a natural isoflavone occurring in many plants known to possess various biological activities, ranging from phyto-oestrogenic to antioxidative actions.
Narajczyk, Magdalena +10 more
core +1 more source