Results 11 to 20 of about 9,431 (199)
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
doaj +3 more sources
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 +5 more sources
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
doaj +6 more sources
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
openaire +6 more sources
Audiometric evaluation in individuals with mucopolysaccharidosis [PDF]
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
doaj +2 more sources
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
doaj +2 more sources
Stomatological Problems in Child with the II Type Mucopolysaccharidosis [PDF]
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
doaj +2 more sources
Bone metabolism in patients with mucopolysaccharidosis type II [PDF]
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
doaj +2 more sources
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
openaire +4 more sources
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
doaj +3 more sources