Results 151 to 160 of about 12,041 (191)
Some of the next articles are maybe not open access.
Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome)
Child's Nervous System, 1997Three 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
openaire +2 more sources
Further cases of “neighbor” mutations in mucopolysaccharidosis type II
American Journal of Medical Genetics Part A, 2006Ida 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 +10 more
openaire +2 more sources
Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II
Pediatrics, 2011OBJECTIVE: 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 +2 more
openaire +2 more sources
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
Journal of Inherited Metabolic Disease, 2009SummaryThe 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 +20 more
openaire +2 more sources
[Prenatal diagnosis of mucopolysaccharidosis type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2011To 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 +2 more
openaire +1 more source
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).
Human genetics, 2006We 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 +6 more
openaire +4 more sources
Mucopolysaccharidosis type II, Hunter's syndrome.
Pediatric endocrinology reviews : PER, 2014Hunter 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, 2011Mucopolysaccharidosis (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.
openaire +2 more sources
UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II
Acta Paediatrica, 2007Michael, Beck, Ed, Wraith
openaire +2 more sources