Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Home Page
About
Submit A Journal
Submit A Conference
Submit Paper/Book
- Submit a Preprint
- Submit a Book
Contact

Çağdaş Tıp Dergisi
Volume:11 Issue:5
Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Authors : Özden TURAN, Deniz ANUKİNCE, Zerrin YİLMAZ, Ayşe ECEVİT

Pages : 747-748

Doi:10.16899/jcm.891827

View : 55 | Download : 14

Publication Date : 2021-09-17

Article Type : Other Papers

Abstract :Niemann-Pick Tip C hastalığı (NPC), esterifiye olmamış kolesterollerin lizozomlarda depolanması ile karekterize nörodejeneratif bir lizozomal depo hastalığıdır. Otozomal resesif kalıtılan bu hastalıktan NPC1 or NPC2 genleri sorumludur (1). Burada, kardeşi yenidoğan döneminde Niemann-Pick Tip C hastalığı tanısı alan ve NPC1 genetik analizi sonucunda birleşik heterozigot Niemann-Pick Tip C hastalığı saptanan yenidoğan olgusu sunuldu.
Keywords : Niemann Pick Tip C, NPC1, yenidoğan

ORIGINAL ARTICLE URL

* There may have been changes in the journal, article,conference, book, preprint etc. informations. Therefore, it would be appropriate to follow the information on the official page of the source. The information here is shared for informational purposes. IAD is not responsible for incorrect or missing information.

Index of Academic Documents
İzmir Academy Association
CopyRight © 2023-2026