Results 121 to 130 of about 8,162 (165)

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
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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
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Further cases of “neighbor” mutations in mucopolysaccharidosis type II

American Journal of Medical Genetics Part A, 2006
Ida 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, Luciane C, Lima, Karen, Tylee, Ruy P Oliveira, Sobrinho, Denise Y J, Norato, Andréa R, Duarte, Guy, Besley, Maira G, Burin, Ursula, Matte, Roberto, Giugliani, Sandra, Leistner-Segal   +10 more
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MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome)

Neuroradiology, 1996
We report imaging findings in a 3-year-old boy with the typical mild type of Hunter's disease. MRI revealed multifocal large cyst- or spindle-like areas of increased and decreased signal in the white matter, including the corpus callosum on T1- and T2-weighted images.
N, Shinomiya, T, Nagayama, Y, Fujioka, T, Aoki   +3 more
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Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II

Current Protocols in Human Genetics, 2013
AbstractMucopolysaccharidosis type II (MPS II) is an X‐linked lysosomal storage disorder caused by a deficiency of iduronate 2‐sulfatase (IDS). Progressive, intralysosomal accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in almost all tissues leads to multi‐organ involvement in affected males but to virtual absence of symptoms
Britt A, Johnson, Otto P, van Diggelen, Angela, Dajnoki, Olaf A, Bodamer   +3 more
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Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II

Cognitive Neuropsychology, 2017
Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS
Louise, Crowe, Joy, Yaplito-Lee, Vicki, Anderson, Heidi, Peters   +3 more
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A clinical study of 77 patients with mucopolysaccharidosis type II

Acta Paediatrica, 2007
AbstractAim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II).Methods: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the ...
Ida V D, Schwartz, Márcia G, Ribeiro, João G, Mota, Maria Betânia P, Toralles, Patrícia, Correia, Dafne, Horovitz, Emerson S, Santos, Isabella L, Monlleo, Agnes C, Fett-Conte, Ruy P Oliveira, Sobrinho, Denise Y J, Norato, Anna Carolina, Paula, Chong A, Kim, Andréa R, Duarte, Raquel, Boy, Eugênia, Valadares, Maria, De Michelena, Paulina, Mabe, Cyro D, Martinhago, João M, Pina-Neto, Fernando, Kok, Sandra, Leistner-Segal, Maira G, Burin, Roberto, Giugliani   +23 more
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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
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Psychological status of patients with mucopolysaccharidosis type II and their parents

Pediatrics International, 2009
AbstractBackground:  The aim of the present study was to delineate the psychological status of 10 patients with the attenuated phenotype of mucopolysaccharidosis type II (MPS‐II) and their parents (six fathers and five mothers) for the improvement of clinical management.Methods:  Intellectual ability was evaluated using the Wechsler Intelligence Scale.
Izumi, Kuratsubo, Yasuyuki, Suzuki, Koji O, Orii, Tomomi, Kato, Tadao, Orii, Naomi, Kondo   +5 more
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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
openaire   +2 more sources