Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience
Makaleler > Tam Makale · 2018
Yazarlar: Ebru CANDA, Havva YAZICI, Esra Er, Cenk ERASLAN, Sema KALKAN UÇAR, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 28-33
DOI: 10.4274/jpr.52244
Özet
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, coarse facial features.