Results 171 to 180 of about 12,127 (209)

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
openaire   +2 more sources

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
openaire   +1 more source

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

Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment

Current Pharmaceutical Biotechnology, 2011
Mucopolysaccharidosis (MPS) type II (Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.
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Mucopolysaccharidosis type II

Acta Paediatrica, 2007
Froissart, R, Silva, IM, Maire, I
openaire   +3 more sources

UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II

Acta Paediatrica, 2007
Michael, Beck, Ed, Wraith
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Newborn screening for mucopolysaccharidosis type II

Molecular Genetics and Metabolism, 2023
Barbara K. Burton, Vera P. Shively, Allegra M. Quadri, Jennifer E. Burton, Katherine Christensen, Dorothy K. Grange, Daniel Groepper, Lauren Warn, Joan Ehrhardt, Laura Ashbaugh, Khaja Basheeruddin   +10 more
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[Clinical aspects of mucopolysaccharidosis type II].

Revista de neurologia, 2008
To review the clinical and diagnostic aspects of mucopolysaccharidosis type II (Hunter syndrome).The different phenotypes are described and the multisystem clinical symptoms are considered, with special emphasis on skeletal deformities and cardiorespiratory and neurological complications.Paediatricians and certain specialists (in neurology, ORL ...
openaire   +1 more source