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An empowered, clinically viable hematopoietic stem cell gene therapy for the treatment of multisystemic mucopolysaccharidosis type II. [PDF]

Mol Ther
Das S, Rruga F, Montepeloso A, Dimartino A, Spadini S, Corre G, Patel J, Cavalca E, Ferro F, Gatti A, Milazzo R, Galy A, Politi LS, Rizzardi GP, Vallanti G, Poletti V, Biffi A.   +16 more
europepmc   +1 more source

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients. [PDF]

Int J Mol Sci
Carvalho S, Santos JI, Moreira L, Duarte AJ, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF.   +21 more
europepmc   +1 more source

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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
openaire   +3 more sources

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

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
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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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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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