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 <i>IDS</i> gene, which leads to accumulation of glycosami...

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書誌詳細

出版年:	Biomedicines
主要な著者:	Zbigniew Żuber, Beata Kieć-Wilk, Łukasz Kałużny, Jolanta Wierzba, Anna Tylki-Szymańska
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2023-06-01
主題:	lysosomal storage disease mucopolysaccharidosis II Hunter syndrome enzyme replacement therapy
オンライン･アクセス:	https://www.mdpi.com/2227-9059/11/6/1668