choline has been researched along with Niemann-Pick Disease, Type C in 3 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 (33.33) | 29.6817 |
| 2010's | 2 (66.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sedel, F | 2 |
| Chabrol, B | 1 |
| Audoin, B | 1 |
| Kaphan, E | 1 |
| Tranchant, C | 1 |
| Burzykowski, T | 1 |
| Tourbah, A | 2 |
| Vanier, MT | 2 |
| Galanaud, D | 2 |
| Lehéricy, S | 1 |
| Leveque, N | 1 |
| Heron, B | 1 |
| Billette de Villemeur, T | 1 |
| Guffon, N | 1 |
| Feillet, F | 1 |
| Baumann, N | 1 |
| Totenhagen, JW | 1 |
| Yoshimaru, ES | 1 |
| Erickson, RP | 1 |
| Trouard, TP | 1 |
3 other studies available for choline and Niemann-Pick Disease, Type C
| Article | Year |
|---|---|
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aspartic Acid; Brain; Choline; Disability Evaluation; Disease | 2016 |
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 |
(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.
Topics: Animals; Aspartic Acid; Biomarkers; Brain; Choline; Magnetic Resonance Spectroscopy; Mice; Mice, Inb | 2013 |