Natural Evolution of Morquio: A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene
Author:
Publisher
Galenos Yayinevi
Subject
General Medicine
Reference5 articles.
1. 1. Stapleton M, Arunkumar N, Kubaski F, Mason RW, Tadao O, Tomatsu S. Clinical presentation and diagnosis of mucopolysaccharidoses. Mol Genet Metab. 2018;125:4-17. [CrossRef]
2. 2. Canda E, Yazıcı H, Er E, Eraslan C, Uçar SK, Çoker M. Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience. J Pediatr Res. 2018;5(Supple 1):28-33. [CrossRef]
3. 3. Kılavuz S, Basaran S, Kor D, et al. Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series. Orphanet J Rare Dis. 2021;16:144. [CrossRef]
4. 4. Chien YH, Lee NC, Chen PW, et al. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns. Orphanet J Rare Dis. 2020;15:38. [CrossRef]
5. 5. Terzioglu M, Tokatli A, Coskun T, Emre S. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene. Hum Mutat. 2002;20:477-478. [CrossRef]
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