Results 1 to 10 of about 21,613 (172)

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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Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study

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, Aly Ezzat, Fatima Altamimi, Marwan ElBagoury, Mohammed Olfat, Mohammed Saleh, Sherif Roushdy, Yahia Aktham   +7 more
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Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

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, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 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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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, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc, Nguyen Thi Kim Hoa   +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, Roberto Felice Caporali, Achille Marino   +2 more
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Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery

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, Concetta De Filippis, Barbara Napoli, Rosella Tomanin, Genny Orso   +4 more
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The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”

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, Bernat Miguel-Huguet, Andrea Malfettone, José Manuel Pérez-García, José Manuel Pérez-García, Antonio Llombart-Cussac, Antonio Llombart-Cussac, Javier Cortés, Javier Cortés, Javier Cortés, Almudena Pardo, Jordi Pérez-López   +11 more
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Individual Treatment Trials—Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?

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, Hannah Strobl, Florian B. Lagler   +2 more
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