Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions [PDF]
Genetics and Molecular Biology, 2021 The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may ...
Juliana Alves Josahkian +11 more
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Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses [PDF]
Diagnostics, 2020 Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the ...
Galina Baydakova +8 more
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Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses [PDF]
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
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Taiwan Journal of Ophthalmology, 2023 Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs.
Kusumitha Bhakthaganesh +5 more
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Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]
Diagnostics, 2020 The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Kenji Orii +4 more
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Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses [PDF]
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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Enzyme replacement therapies: what is the best option? [PDF]
BioImpacts, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Azam Safary +4 more
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Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape [PDF]
Neural Regeneration ResearchMucopolysaccharidoses type IIIB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase. This results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive
Courtney J Rouse +2 more
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Diagnosis of Mucopolysaccharidoses
Diagnostics, 2020 The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs).
Francyne Kubaski +2 more
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Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter
Indian Journal of Anaesthesia, 2008 Cases of Mucopolysaccharidoses (MPS), though rare, may pose many challenges for the anaesthesiologist. Maintaining the airway may be extremely difficult even in the most experienced hands.
Madhuri S Kurdi, S S Deshpande
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