OP-122 Mucopolysaccharidosis type II in turkey from the east to the west

AimThe aims of reporting these cases were to better characterise the phenotypic and genotypic features of a large group of Turkish Mucopolysaccharidosis type II (MPS II) patients from two different parts of Turkey and to describe the clinical outcomes of these patients after initiating enzyme replac...

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Veröffentlicht in:	BMJ paediatrics open 2024-07, Vol.8 (Suppl 5), p.A55-A55
Hauptverfasser:	Yazıcı, Havva, Kara, Esra, Bulut, Fatma Derya, Çelik, Merve Yoldaş, Köşeci, Burcu, Karapınar, Fehime Erdem, Burgaç, Ezgi, Yanbolu, Ayşe Yüksel, Kaplan, İrem, Durmaz, Asude, Aykut, Ayça, Canda, Ebru, Kor, Deniz, Uçar, Sema Kalkan, Sözmen, Eser, Çoker, Mahmut, Önenli Mungan, Halise Neslihan
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetic disorders genotype Hunter syndrome idursulfase Medical screening Metabolic disorders mucopolysaccharidosis Oral Presentation Pediatrics
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