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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker
Format: Artigo
Sprache:Inglês
Veröffentlicht: Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2018-03-01
Schriftenreihe:Journal of Pediatric Research
Schlagworte:
MPS IVA
Morquio A
dysostosis multiplex
cardiac valve
corneal clouding
Online-Zugang: http://jpedres.org/archives/archive-detail/article-preview/clinical-presentation-and-follow-up-of-patients-wi/18764
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