Results 131 to 140 of about 11,815 (173)

Mucopolysaccharidosis type II: skeletal–muscle system involvement

Journal of Pediatric Orthopaedics B, 2010
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate.
Sandra Regina, Morini, Carlos Eduardo, Steiner, Lelia Britto Passos, Gerson   +2 more
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Mucopolysaccharidosis type II: an update on mutation spectrum

Acta Paediatrica, 2007
AbstractMucopolysaccharidosis type II (MPS II; Hunter disease) is caused by deficiency of the enzyme iduronate‐2‐sulphatase (IDS) and patients present with a wide range of clinical signs and symptoms. The level of activity of IDS, however, does not allow prediction of phenotype.
Roseline, Froissart, Isabel Moreira, Da Silva, Irène, Maire   +2 more
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Characterization of heart disease in mucopolysaccharidosis type II mice

Cardiovascular Pathology, 2023
Mucopolysaccharidosis type II (MPSII) is a progressive lysosomal storage disease caused by mutations in the IDS gene, that leads to iduronate 2-sulfatase (IDS) enzyme deficiency. The enzyme catalyzes the first step of degradation of two glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS).
Angela Maria Vicente, Tavares, Esteban Alberto, Gonzalez, Isabelle Souza, Viana, Fernanda, Visioli, Luisa Natalia Pimentel, Vera, Guilherme, Baldo   +5 more
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Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome)

Child's Nervous System, 1997
Three cases of mild mucopolysaccharidosis type II (Hunter syndrome) who presented with cervical cord compression are reported, with emphasis on their clinical presentations and surgical management.
D P, O'Brien, R A, Cowie, J E, Wraith
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Further cases of “neighbor” mutations in mucopolysaccharidosis type II

American Journal of Medical Genetics Part A, 2006
Ida V.D. Schwartz,* Luciane C. Lima, Karen Tylee, Ruy P. Oliveira Sobrinho, Denise Y.J. Norato, Andrea R. Duarte, Guy Besley, Maira G. Burin, Ursula Matte, Roberto Giugliani, and Sandra Leistner-Segal Department of Genetics and Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do
Ida V D, Schwartz, Luciane C, Lima, Karen, Tylee, Ruy P Oliveira, Sobrinho, Denise Y J, Norato, Andréa R, Duarte, Guy, Besley, Maira G, Burin, Ursula, Matte, Roberto, Giugliani, Sandra, Leistner-Segal   +10 more
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Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II

Pediatrics, 2011
OBJECTIVE: Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess heparan and dermatan sulfates within the lysosomes of various tissues and organs, including the central nervous system.
Joshua B, Holt, Michele D, Poe, Maria L, Escolar   +2 more
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Clinical and biochemical studies in mucopolysaccharidosis type II carriers

Journal of Inherited Metabolic Disease, 2009
SummaryThe aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty‐two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS ...
I V D, Schwartz, L L C, Pinto, G, Breda, L, Lima, M G, Ribeiro, J G, Mota, A X, Acosta, P, Correia, D D G, Horovitz, C G G, Porciuncula, E, Lipinski-Figueiredo, A C, Fett-Conte, R P, Oliveira Sobrinho, D Y J, Norato, A C, Paula, C A, Kim, A R, Duarte, R, Boy, S, Leistner-Segal, M G, Burin, R, Giugliani   +20 more
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[Prenatal diagnosis of mucopolysaccharidosis type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011
To establish a method of iduronate-2-sulfatase (IDS) activity assay and mutation analysis of IDS gene for the prenatal diagnosis of mucopolysaccharidosis type II (MPSII).Prenatal diagnosis of two cases was performed using cultured fetal amniotic fluid cells.
Xin-shun, Zhang, Hui-wen, Zhang, Xue-fan, Gu   +2 more
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Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).

Human genetics, 2006
We report here the first exonic splicing mutation in a 8-year old intermediate Hunter patient. Genomic DNA sequencing identified a G to C transversion involving the last nucleotide of IDS exon VI (ExVI 1003G>C). The mutation leads to the disappearance of the normal exon VI/intron 6 splice donor site, resulting in the skipping of a 28 bp fragment of ...
Villani GR, Pontarelli G, Kotroni G, PARENTI, GIANCARLO, Sibilio M, ANDRIA, GENEROSO, DI NATALE, PAOLA   +6 more
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Mucopolysaccharidosis type II, Hunter's syndrome.

Pediatric endocrinology reviews : PER, 2014
Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided into severe (2/3) and attenuated types.
openaire   +1 more source