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Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya. [PDF]

Orphanet J Rare Dis
Mungai LNW, Njeru C, Njoroge A, Maina M, Ilovi S, Nduati RW, Wamalwa D, Odongkara B, Miller DE.   +8 more
europepmc   +1 more source

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA. [PDF]

Curr Issues Mol Biol
Celik B, Saikia S, Khan S, Musini KS, Tomatsu S.   +4 more
europepmc   +1 more source

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Nasal Polyposis in mucopolysaccharidosis type II

BMJ Case Reports, 2021
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS.
Sushmitha Kabekkodu, Suja Sreedharan, Kirti Gupta, Nirupama Murali   +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
openaire   +3 more sources

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

Current Pharmaceutical Design, 2020
Background:Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which leads to the accumulation of glycosaminoglycans (GAGs) in a variety of tissues, resulting in a multisystemic disease that can also impair the central nervous system (CNS).Objective:This review ...
Francyne Kubaski, Filippo Vairo, Guilherme Baldo, Fabiano de Oliveira Poswar, Amauri Dalla Corte, Roberto Giugliani   +5 more
openaire   +2 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
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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
openaire   +2 more sources