Results 141 to 150 of about 12,041 (191)

Mucopolysaccharidosis type II – genotype/phenotype aspects

Acta Paediatrica, 2002
Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore,
Froissart, R, Silva, IMoreira da, Guffon, N, Bozon, D, Maire, I   +4 more
openaire   +3 more sources

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Molecular Genetics and Metabolism, 2023
We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017 and April 30, 2022. A total of 76 infants were referred for diagnostic testing, 0.01% of the screened population. Of these, eight
Barbara K, Burton, Vera, Shively, Allegra, Quadri, Lauren, Warn, Jennifer, Burton, Dorothy K, Grange, Katherine, Christensen, Daniel, Groepper, Laura, Ashbaugh, Joan, Ehrhardt, Khaja, Basheeruddin   +10 more
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A molecular genetics view on Mucopolysaccharidosis Type II

Mutation Research/Reviews in Mutation Research, 2021
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (IDS) gene.
Shalja Verma, Supansa Pantoom, Janine Petters, Anand Kumar Pandey, Andreas Hermann, Jan Lukas   +5 more
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Expanding the phenotype of mucopolysaccharidosis type II retinopathy

Ophthalmic Genetics, 2021
Purpose: To report novel retinal findings in two male patients with mucopolysaccharidosis type II (Hunter syndrome) receiving long-term human recombinant idursulfase enzyme replacement therapy.Method: Two males aged 19 and 26 years who had received enzyme replacement therapy for 12 and 13 years, respectively, with good compliance and no infusion ...
Tanya Kowalski, Jonathan B Ruddle, Gerard de Jong, Heather G Mack   +3 more
openaire   +2 more sources

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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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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Mucopolysaccharidosis type II: skeletal–muscle system involvement

Journal of Pediatric Orthopaedics B, 2010
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate.
Sandra Regina, Morini, Carlos Eduardo, Steiner, Lelia Britto Passos, Gerson   +2 more
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Mucopolysaccharidosis type II: an update on mutation spectrum

Acta Paediatrica, 2007
AbstractMucopolysaccharidosis 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, Isabel Moreira, Da Silva, Irène, Maire   +2 more
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Characterization of heart disease in mucopolysaccharidosis type II mice

Cardiovascular Pathology, 2023
Mucopolysaccharidosis type II (MPSII) is a progressive lysosomal storage disease caused by mutations in the IDS gene, that leads to iduronate 2-sulfatase (IDS) enzyme deficiency. The enzyme catalyzes the first step of degradation of two glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS).
Angela Maria Vicente, Tavares, Esteban Alberto, Gonzalez, Isabelle Souza, Viana, Fernanda, Visioli, Luisa Natalia Pimentel, Vera, Guilherme, Baldo   +5 more
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