Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
Ferda Özkınay(Ege University), Hüseyin Önay(Austen Riggs Center), Tahir Atık(Ege University), Beyhan Tüysüz(Istanbul University-Cerrahpaşa), Durdugül Ayyıldız Emecen(Ege University), Ebru Canda(Ege University), Ayşe Ergül Bozacı(Ege University), Melis Köse(Children's Hospital of Philadelphia), Tanyel Zübarioğlu(Istanbul University-Cerrahpaşa)
Cited by 16
Related Papers
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
|The American Journal of Human Genetics|2013|233
Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else?
|Experimental Dermatology|2008|210
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
|The American Journal of Human Genetics|2010|118
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
|The Journal of Clinical Endocrinology & Metabolism|2016|99