Results 161 to 170 of about 9,431 (199)
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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
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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
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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
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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
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UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II
Acta Paediatrica, 2007Michael, Beck, Ed, Wraith
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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, 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
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Newborn screening for mucopolysaccharidosis type II
Molecular Genetics and Metabolism, 2023Barbara K. Burton +10 more
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