creatine has been researched along with Niemann-Pick Disease, Type C in 1 studies
Niemann-Pick Disease, Type C: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Galanaud, D | 1 |
| Tourbah, A | 1 |
| Lehéricy, S | 1 |
| Leveque, N | 1 |
| Heron, B | 1 |
| Billette de Villemeur, T | 1 |
| Guffon, N | 1 |
| Feillet, F | 1 |
| Baumann, N | 1 |
| Vanier, MT | 1 |
| Sedel, F | 1 |
1 other study available for creatine and Niemann-Pick Disease, Type C
| Article | Year |
|---|---|
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
Topics: 1-Deoxynojirimycin; Adult; Brain; Choline; Cohort Studies; Creatine; Female; Humans; Magnetic Resona | 2009 |