Results 191 to 200 of about 5,048,722 (239)

Myelopathy in mucopolysaccharidosis type II (Hunter syndrome)

Annals of Neurology, 1980
AbstractA 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, T R, Swift, R T, Leshner, T A, El Gammal, T F, McDonald   +4 more
openaire   +2 more sources

Pathological and biochemical study in the adenoid of mucopolysaccharidosis II

International Journal of Pediatric Otorhinolaryngology, 1985
In 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, A, Kimura, K, Inoue, S, Okada   +3 more
openaire   +2 more sources

Structural gene aberrations in mucopolysaccharidosis II (Hunter)

Human Genetics, 1992
A 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, J J, Hopwood, W, Schröder, F H, Herrmann   +3 more
openaire   +2 more sources

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice

Scientific Reports
Mucopolysaccharidosis type II (MPS II) is caused by a deficiency in iduronate-2-sulfatase (Ids), an enzyme that catabolizes glycosaminoglycan (GAG).
Hyesook Lee, Jung-Hwa Han, Roo Gam Jeong, Y. Kang, Byung Hyun Choi, Seo Rin Kim, Chong Kun Cheon, Jin Hur, S. Lee   +8 more
semanticscholar   +1 more source

Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome)

International Journal of Pediatric Otorhinolaryngology, 2013
Patients 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, Jaya, Nichani, Michael P, Rothera, James Edmond, Wraith, Simon A, Jones, Robert, Walker, Iain A, Bruce   +6 more
openaire   +2 more sources

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

New England Journal of Medicine
BACKGROUND Tividenofusp alfa, comprising iduronate-2-sulfatase fused to an engineered transferrin receptor-binding Fc domain, has been developed to treat neurologic and peripheral manifestations of mucopolysaccharidosis type II (MPS II), a rare lysosomal
J. Muenzer, Barbara K. Burton, P. Harmatz, D. Rajan, Simon A. Jones, J. V. D. van den Hout, John J. Mitchell, Akhil Bhalla, Natalie J. Engmann, Imanol Zubizarreta, Wei Dong, Fabian Model, Ryan J Watts, Matt D. Troyer, Peter S Chin, Carole Ho   +15 more
semanticscholar   +1 more source

A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II.

Bioanalysis, 2018
AIM The study aimed to develop an LC-MS/MS assay to measure dermatan sulfate (DS) in human cerebrospinal fluid (CSF). METHODS & RESULTS DS was quantified by ion pairing LC-MS/MS analysis of the major disaccharides derived from chondroitinase B ...
Peng Pan, Mu Chen, Zhiling Zhang, A. Corte, C. Souza, R. Giugliani, Luying Pan, Yongchang Qiu, L. Amaravadi, Jiang Wu   +9 more
semanticscholar   +1 more source

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants

Human Genomics
Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected,
A. Zanetti, F. D’Avanzo, R. Tomanin
semanticscholar   +1 more source

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement

Orphanet Journal of Rare Diseases
Patients with mucopolysaccharidosis type II (MPS II) can present with a severe neuronopathic phenotype or an attenuated non-neuronopathic phenotype.
R. Giugliani, A. M. D. de Siqueira, Emerson Santana Santos, E. K. E. Leão, G. Carvalho, Maria L. S. F. Santos, Salmo Raskin, A. M. Martins   +7 more
semanticscholar   +1 more source

Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II

Journal of Inherited Metabolic Disease
Mucopolysaccharidosis type II (MPS II) is a rare multisystemic lysosomal disorder in which cardiac issues can lead to serious dysfunction and an increased risk of fatal cardiac failure.
Ji Hee Kwak, Y. Choi, Sinae Kim, A. Yang
semanticscholar   +1 more source