Results 11 to 20 of about 15,739 (180)
A case study of three patients with mucopolysaccharidoses in Hue Central Hospital
SAGE Open Medical Case Reports, 2020 Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various ...
Tran Kiem Hao +3 more
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Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know
Diagnostics, 2022 Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or
Stefania Costi +2 more
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Biomedicines, 2021 Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters.
Laura Rigon +4 more
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Frontiers in Molecular Biosciences, 2021 Nonrandomized studies are usually excluded from systematic reviews. This could lead to loss of a considerable amount of information on rare diseases. In this article, we explore the impact of excluding nonrandomized studies on the generalizability of ...
Miguel Sampayo-Cordero +11 more
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Pharmaceuticals, 2023 Mucopolysaccharidoses (MPS) are a group of rare, heterogeneous, lysosomal storage disorders. Patients show a broad spectrum of clinical features with a substantial unmet medical need.
Anna-Maria Wiesinger +2 more
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EMBO Molecular Medicine, 2020 Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain.
Helen Parker +13 more
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Hearing Loss in Mucopolysaccharidosis
International Archives of Otorhinolaryngology, 2021 Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical ...
Cibele Gomes Bicalho +3 more
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EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS
Педиатрическая фармакология, 2014 Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms.
L. S. Namazova-Baranova +10 more
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Diagnostics, 2020 Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy.
Hsiang-Yu Lin +8 more
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Cochlear implantation in a patient with mucopolysaccharidosis IVA
SAGE Open Medical Case Reports, 2019 Mucopolysaccharidosis IVA (OMIM 253000; also known as Morquio A syndrome) is associated with skeletal, airway, and hearing abnormalities. Cochlear implantation is an effective intervention for patients with severe-to-profound hearing loss.
Kyoko Nagao +7 more
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