Results 1 to 10 of about 25,225 (156)
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
PLoS ONE, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Omar Khalid +7 more
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Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
Frontiers in Pediatrics, 2022 Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The
Ying Li, Deyun Liu, Yue Yu
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MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]
Trakia Journal of Sciences, 2020 Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
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JMIR Research Protocols, 2021 BackgroundSince the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic
Danyah Alsafadi +7 more
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Molecular Therapy: Methods & Clinical Development, 2020 Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada +13 more
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Mucopolysaccharidoses and the blood–brain barrier
Fluids and Barriers of the CNS, 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 ...
Onur Sahin +4 more
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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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Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis
罕见病研究, 2023 Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related ...
SHI Meipan, SHI Caiping, DU Chixin
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Orphanet Journal of Rare Diseases, 2020 Objective Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease.
Rajkumar Sundarapandian +4 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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