Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations von Mahmoud, Iman G., Elmonem, Mohamed A., Elkhateeb, Nour M., Elnaggar, Walaa, Sobhi, Ahmed, Girgis, Marian Y., Kamel, Mona, Shaheen, Yara, Samaha, Mona, Ramadan, Areef, Zaki, Maha S., El‐Hawary, Bahaa, Hassan, Sawsan A., Khalifa, Iman A., Mossad, Fawzya, Al‐Menabawy, Nihal M., Zielke, Susanne, Gleeson, Joseph G., Rolfs, Arndt, Selim, Laila A.

Volltext