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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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
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Prenatal Mucopolysaccharidosis II (Hunter): A Pathogenetic Study [PDF]
Pediatric Research, 1980 A prenatal diagnosis of Mucopolysaccharidosis II (M. Hunter) was made early in a pregnancy at risk in a family with one affected child. An affected fetus was diagnosed on the basis of an abnormal incorporation and degradation of 35SO4 in 35SO4-labeled mucopolysaccharides in cultured amniotic cells. Dermatan sulfate and heparin sulfate concentrations in
Wiesmann, Ulrich U.N. +4 more
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Audiologic evaluations of children with mucopolysaccharidosis [PDF]
Brazilian Journal of Otorhinolaryngology, 2016 INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Çağil Gökdoğan +7 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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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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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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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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Relationship of Sleep to Pulmonary Function in Mucopolysaccharidosis II [PDF]
The Journal of Pediatrics, 2013 To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidosis (MPS) II (Hunter syndrome).
William I, Wooten +3 more
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Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report [PDF]
Journal of Medical Case Reports, 2010 Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding.
Sharma Subodh, Mahal Tania, Shah Gauri
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