Results 91 to 100 of about 21,613 (172)

Pigmented Paravenous Chorioretinal Atrophy and Mucopolysaccharidosis: A Case Report

Journal of Current Ophthalmology
Purpose: To report the atypical case of a patient with mucopolysaccharidosis type II (MPS II) in whom bilateral pigmented paravenous chorioretinal atrophy (PPRCA) was found. Methods: An observational case report. Results: We present the case of a 31-year-
Zineb Algouti, Houda Bezza, Mohamed Kriet, Fouad El asri   +3 more
doaj   +1 more source

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
doaj   +1 more source

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome)

, 2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome)
Rigante, D
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Diagnostic and treatment strategies in mucopolysaccharidosis VI

, 2015
Filippo Vairo,1–3 Andressa Federhen,1,3,4 Guilherme Baldo,1,2,5–7 Mariluce Riegel,1,6 Maira Burin,1 Sandra Leistner-Segal,1,8 Roberto Giugliani1,5,6,81Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;
Federhen A, Leistner-Segal S, Giugliani R, Vairo F, Burin M, Baldo G, Riegel M   +6 more
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An uncommon presentation of mucopolysaccharidosis type IIIB similar to the landau-kleffner syndrome

, 2019
Mucopolysaccharidosis type III (MPS III; Sanflilippo syndrome) is a metabolic disorder characterized by a lysosomal enzyme deficiency in the catabolic pathway of heparan sulphate.
Feshangchi-Bonab, Mohammad, Taherian, Reza, Rezayi, Alireza   +2 more
core   +1 more source

Mucopolysaccharidosis Type 3B in an Adult with Pancytopenia: A Rare Case Report

, 2014
Mucopolysaccharidoses are rare hereditary lysosomal storage diseases developing due to dysfunction or deficiencies in enzymes that metabolize long-chain carbohydrates and glycosaminoglycans.
Nihal Güzelay, Alparslan Merdin, Fatma Avcı Merdin, Mustafa Karaca   +3 more
core   +1 more source

Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.

, 2014
Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.
Anna Tylki-Szymańska (508670), Agnieszka Różdżyńska-Świątkowska (508668), Agnieszka Jurecka (508669), Zbigniew Żuber (508667)   +3 more
core   +1 more source

α-L-iduronidase therapy for mucopolysaccharidosis type I

, 2008
Jakub Tolar, Paul J OrchardDivision of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler ...
Jakub Tolar, Paul J Orchard
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Botulinum Toxin Type A for the Treatment of Equinus Deformity in to Patients With Mucopolysaccharidosis Type II

, 2012
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature ...
Nava, Esmeralda, Weber, Peter, Nuoffer, Jean-Marc, Grunt, Sebastian, Gautschi, Matthias, Nava E, Grunt S, Nuoffer JM, Weber P, Gautschi M   +9 more
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Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

Frontiers in Pediatrics
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene.
Hind Alsharhan, Hind Alsharhan, Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari   +7 more
doaj   +1 more source