lysosomal storage disorder

Iman G. Mahmoud, 1, 2 Mohamed A. Elmonem, 1 Nour M. Elkhateeb, 1 Walaa Elnaggar, 1 Ahmed Sobhi, 1 Marian Y.Girgis, 1 Mona Kamel, 1 Yara Shaheen, 1 Mona Samaha, 1 Areef Ramadan, et al., "Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations", Clinical genetics, vol. DOI: 10.1111/cge.13492, issue DOI: 10.1111/cge.13492, pp. 1-3 , 2019.