학술논문
Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Document Type
Article
Author
Mahmoud, Iman G.; Elkhateeb, Nour M.; Elnaggar, Walaa; Sobhi, Ahmed; Girgis, Marian Y.; Kamel, Mona; Shaheen, Yara; Samaha, Mona; Ramadan, Areef; Hassan, Sawsan A.; Khalifa, Iman A.; Mossad, Fawzya; Al‐Menabawy, Nihal M.; Selim, Laila A.; Elmonem, Mohamed A.; Zaki, Maha S.; El‐Hawary, Bahaa; Zielke, Susanne; Rolfs, Arndt; Gleeson, Joseph G.
Source
Subject
*GENETIC markers
*NIEMANN-Pick diseases
*GENETIC disorders
*COHORT analysis
*GENETIC mutation
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Language
ISSN
0009-9163
Abstract
The article discusses a study on the clinical, and genetic spectrum and characteristics of the first Niemann-Pick type C (NPC) cohort in Egypt. It states that NPC is a rare autosomal recessive lysosomal storage disorder caused by deleterious mutations. It states that the study confirms the validity of a new biomarker, lysosphingomyelin-509 (Lyso-SM-509), as a diagnostic tool in dried blood spots for the diagnosis of NPC. It discusses the detection of nine novel NPC1 mutations.