NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.
Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of bioma...
| Үндсэн зохиолчид: | , , , , , , , , , |
|---|---|
| Формат: | Journal article |
| Хэвлэсэн: |
Nature Publishing Group
2017
|