Results 151 to 160 of about 5,715,301 (195)
Some of the next articles are maybe not open access.
Mucopolysaccharidosis type II: an update on mutation spectrum
Acta Paediatrica, 2007AbstractMucopolysaccharidosis 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 +2 more
openaire +2 more sources
Central Corneal Thickness in Mucopolysaccharidosis II and VI
Cornea, 2010To describe the ultrasonographically detected central corneal thickness (CCT) in patients with Type II and VI mucopolysaccharidosis (MPS) and its impact on applanation tonometry and glaucoma detection.Twenty-eight patients with MPS (19 MPS II, nine MPS VI) underwent pachymetric investigation of CCT. Additionally, ultrasound measurements of axial length
Ulrike, Kottler +4 more
openaire +2 more sources
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
Pediatrics, 2008Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and ...
Rick, Martin +6 more
openaire +2 more sources
Pathological and biochemical study in the adenoid of mucopolysaccharidosis II
International Journal of Pediatric Otorhinolaryngology, 1985In the patients with mucopolysaccharidosis II (MPS II, Hunter's syndrome), conductive and sensorineural hearing deficits are frequently observed. Two patients with MPS II underwent adenoidectomy and an ear douche, and their conductive hearing loss recovered after the surgery. Pathological examination of the adenoids revealed the infiltration of faintly
T, Fujitani +3 more
openaire +2 more sources
Growth patterns in children with mucopolysaccharidosis I and II
World Journal of Pediatrics, 2014Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II.The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed.
Różdżyńska-Świątkowska, Agnieszka +3 more
openaire +2 more sources
Myelopathy in mucopolysaccharidosis type II (Hunter syndrome)
Annals of Neurology, 1980AbstractA 24‐Year‐old man with Hunter syndrome had spastic quadriparesis due to impingement of thickened meninges upon the cervical spinal cord. Tracheal narrowing due to submucosal deposits (presumably mucopolysaccharide) produced serious ventilatory complications during induction of anesthesia and necessitated tracheostomy before surgical ...
C E, Ballenger +4 more
openaire +2 more sources
Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome)
International Journal of Pediatric Otorhinolaryngology, 2013Patients with mucopolysaccharidosis type II (MPS II) may develop progressive multi-level upper airway obstruction. Despite the unique challenges presented by these complex patients, tracheostomy remains an important intervention to safeguard the airway when other interventions have failed or when the airway obstruction involves multiple sites.
Vikas, Malik +6 more
openaire +2 more sources
Structural gene aberrations in mucopolysaccharidosis II (Hunter)
Human Genetics, 1992A total of 14 unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency (Hunter syndrome, MPS II) showing variable clinical manifestations was screened for structural gene aberrations by Southern analysis. Using the IDS cDNA clone c2S15 as a probe, no Southern fragments could be detected in blots in the severely affected patient G ...
M, Wehnert +3 more
openaire +2 more sources
UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II
Acta Paediatrica, 2007Michael, Beck, Ed, Wraith
openaire +2 more sources