Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review.
Saved in:
| Title: | Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review. |
|---|---|
| Authors: | Sedik, Rozhan Nabaz Mohammed1,2 (AUTHOR), Sharif, Lawand A.3 (AUTHOR), Kareem, Honar O.4 (AUTHOR), Hasan, Karzan M.2,4 (AUTHOR), Mohammed, Bilal A.4 (AUTHOR), Mohammed, Thamr O.5,6 (AUTHOR), Arif, Ali T.5,7 (AUTHOR), Sabir, Wrya N.8 (AUTHOR), Mustafa, Ayman M.9,10 (AUTHOR), Rashid, Bilal A10 (AUTHOR), Kakamad, Fahmi Hussein1,9,10,11 (AUTHOR) kakamad.fahmi@gmail.com |
| Source: | Journal of Rare Diseases. 7/22/2026, Vol. 5 Issue 1, p1-7. 7p. |
| Database: | Academic Search Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
Be the first to leave a comment!
