Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland

Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the IDS gene, which leads to accumulation of glycosaminoglycans (GAGs). D...

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Detalles Bibliográficos
Autores principales: Żuber, Zbigniew, Kieć-Wilk, Beata, Kałużny, Łukasz, Wierzba, Jolanta, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296388/
https://www.ncbi.nlm.nih.gov/pubmed/37371763
http://dx.doi.org/10.3390/biomedicines11061668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296388/
https://www.ncbi.nlm.nih.gov/pubmed/37371763
http://dx.doi.org/10.3390/biomedicines11061668

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