Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of &#945;-<span style="font-variant: small-caps;">l</span>-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classic...

詳細記述

書誌詳細

主要な著者:	Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2020-03-01
シリーズ:	Diagnostics
主題:	mucopolysaccharidosis type i hurler syndrome hurler–scheie syndrome scheie syndrome glycosaminoglycans enzyme replacement therapy hematopoietic stem cell transplantation
オンライン･アクセス:	https://www.mdpi.com/2075-4418/10/3/161
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!