Mucopolysaccharidosis Type II in the Practice of the Physician
Aktualʹnaâ Infektologiâ, 2016 The article is devoted to one of the hereditary diseases — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide ...
I.Y. Vatanskaya +2 more
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Mucopolysaccharidosis Type II and the G374sp Mutation [PDF]
Molecular Syndromology, 2013 Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues.
Martínez-Quintana, E. +1 more
openaire +4 more sources
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation [PDF]
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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Bone metabolism in patients with mucopolysaccharidosis type II
Rheumatology, 2014 Objectives : To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology.
Zbigniew Żuber +4 more
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Stomatological Problems in Child with the II Type Mucopolysaccharidosis
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
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Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities [PDF]
International Journal of Molecular Sciences, 2021 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans—heparan sulphate and dermatan sulphate—in almost ...
Paweł Zapolnik
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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign [PDF]
Journal of Pediatric Research, 2021 Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly.
Ayşe Hitay İnan +6 more
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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency [PDF]
Вопросы современной педиатрии, 2020 Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze +6 more
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Audiometric evaluation in individuals with mucopolysaccharidosis
Clinics, 2018 OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated.
Marcela Rosana Maia da Silveira +4 more
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Cervical spondylolisthesis in mucopolysaccharidosis type II. [PDF]
Neurol Sci, 2023 Rossi A, Parenti G.
europepmc +4 more sources