Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

Aim:Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coars...

詳細記述

書誌詳細

主要な著者:	Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
フォーマット:	Artigo
言語:	Inglês
出版事項:	Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
シリーズ:	Journal of Pediatric Research
主題:	MPS IVA Morquio A dysostosis multiplex cardiac valve corneal clouding
オンライン･アクセス:	http://jpedres.org/archives/archive-detail/article-preview/clinical-presentation-and-follow-up-of-patients-wi/18764
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!