Results 151 to 160 of about 12,452,915 (192)

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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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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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
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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, 2011
To 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, Hui-wen, Zhang, Xue-fan, Gu   +2 more
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UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II

Acta Paediatrica, 2007
Michael, Beck, Ed, Wraith
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Mucopolysaccharidosis type II

Acta Paediatrica, 2007
Froissart, R, Silva, IM, Maire, I
openaire   +3 more sources

Mucopolysaccharidosis type II, Hunter's syndrome.

Pediatric endocrinology reviews : PER, 2014
Hunter 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