Results 11 to 20 of about 12,452,915 (192)
Педиатрическая фармакология, 2011 Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of
N.D. Vashakmadze +6 more
doaj +7 more sources
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
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 +4 more sources
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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Nasal Polyposis in mucopolysaccharidosis type II. [PDF]
BMJ Case Rep, 2021 Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Kabekkodu S +3 more
europepmc +4 more sources
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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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 +3 more sources
Biomarkers in patients with mucopolysaccharidosis type II and IV
Molecular Genetics and Metabolism Reports, 2019 Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka +11 more
doaj +3 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 +2 more sources
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
doaj +2 more sources