phosphorylcholine has been researched along with Niemann-Pick Disease, Type C in 6 studies
Phosphorylcholine: Calcium and magnesium salts used therapeutically in hepatobiliary dysfunction.
phosphocholine : The phosphate of choline; and the parent compound of the phosphocholine family.
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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms." | 1.46 | Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases. ( Asfaw, B; Gulinello, ME; Jahnova, H; Kuchar, L; Ledvinova, J; Lugowska, A; Malinova, V; Poupetova, H; Sikora, J, 2017) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 4 (66.67) | 24.3611 |
| 2020's | 2 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Maekawa, M | 1 |
| Jinnoh, I | 1 |
| Matsumoto, Y | 1 |
| Narita, A | 1 |
| Mashima, R | 1 |
| Takahashi, H | 1 |
| Iwahori, A | 1 |
| Saigusa, D | 1 |
| Fujii, K | 1 |
| Abe, A | 1 |
| Higaki, K | 1 |
| Yamauchi, S | 1 |
| Ozeki, Y | 1 |
| Shimoda, K | 1 |
| Tomioka, Y | 1 |
| Okuyama, T | 1 |
| Eto, Y | 2 |
| Ohno, K | 1 |
| T Clayton, P | 1 |
| Yamaguchi, H | 1 |
| Mano, N | 1 |
| Sidhu, R | 1 |
| Kell, P | 1 |
| Dietzen, DJ | 1 |
| Farhat, NY | 1 |
| Do, AND | 1 |
| Porter, FD | 1 |
| Berry-Kravis, E | 1 |
| Vite, CH | 1 |
| Reunert, J | 2 |
| Marquardt, T | 3 |
| Giugliani, R | 1 |
| Lourenço, CM | 1 |
| Bodamer, O | 1 |
| Wang, RY | 1 |
| Plummer, E | 1 |
| Schaffer, JE | 1 |
| Ory, DS | 1 |
| Jiang, X | 1 |
| Wu, C | 1 |
| Iwamoto, T | 1 |
| Hossain, MA | 1 |
| Akiyama, K | 1 |
| Igarashi, J | 1 |
| Miyajima, T | 1 |
| Welford, RW | 2 |
| Garzotti, M | 1 |
| Marques Lourenço, C | 1 |
| Mengel, E | 1 |
| Amraoui, Y | 1 |
| Kolb, SA | 2 |
| Morand, O | 1 |
| Groenen, P | 1 |
| Vanier, MT | 1 |
| Gissen, P | 1 |
| Bauer, P | 1 |
| Coll, MJ | 1 |
| Burlina, A | 1 |
| Hendriksz, CJ | 1 |
| Latour, P | 1 |
| Goizet, C | 1 |
| Kuchar, L | 1 |
| Sikora, J | 1 |
| Gulinello, ME | 1 |
| Poupetova, H | 1 |
| Lugowska, A | 1 |
| Malinova, V | 1 |
| Jahnova, H | 1 |
| Asfaw, B | 1 |
| Ledvinova, J | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease[NCT02939547] | Phase 1 | 13 participants (Actual) | Interventional | 2017-10-11 | Completed | ||
| A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes[NCT02912793] | Phase 1/Phase 2 | 12 participants (Actual) | Interventional | 2017-03-20 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for phosphorylcholine and Niemann-Pick Disease, Type C
| Article | Year |
|---|---|
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Topics: Age of Onset; Bile Acids and Salts; Biomarkers; Carrier Proteins; Cholestanes; Genetic Testing; Glyc | 2016 |
5 other studies available for phosphorylcholine and Niemann-Pick Disease, Type C
| Article | Year |
|---|---|
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
Topics: Biomarkers; Female; Humans; Lipids; Male; Niemann-Pick Disease, Type C; Phosphorylcholine; Serine; T | 2019 |
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Topics: 2-Hydroxypropyl-beta-cyclodextrin; Adolescent; Adult; Aged; Animals; Biomarkers; Cats; Child; Child, | 2020 |
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.
Topics: Bile Acids and Salts; Biomarkers; Chromatography, Liquid; Humans; Infant, Newborn; Ketocholesterols; | 2020 |
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Topics: Adolescent; Adult; Aged; Biomarkers; Blood Specimen Collection; Case-Control Studies; Edetic Acid; F | 2014 |
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Topics: Adolescent; Adult; Aged; Biomarkers; Blood Specimen Collection; Case-Control Studies; Edetic Acid; F | 2014 |
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Topics: Adolescent; Adult; Aged; Biomarkers; Blood Specimen Collection; Case-Control Studies; Edetic Acid; F | 2014 |
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Topics: Adolescent; Adult; Aged; Biomarkers; Blood Specimen Collection; Case-Control Studies; Edetic Acid; F | 2014 |
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
Topics: Biomarkers; Case-Control Studies; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Niemann- | 2017 |