Page last updated: 2024-10-17

creatine and Niemann-Pick Disease, Type C

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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Galanaud, D1
Tourbah, A1
Lehéricy, S1
Leveque, N1
Heron, B1
Billette de Villemeur, T1
Guffon, N1
Feillet, F1
Baumann, N1
Vanier, MT1
Sedel, F1

Other Studies

1 other study available for creatine and Niemann-Pick Disease, Type C

ArticleYear
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
    Molecular genetics and metabolism, 2009, Volume: 96, Issue:2

    Topics: 1-Deoxynojirimycin; Adult; Brain; Choline; Cohort Studies; Creatine; Female; Humans; Magnetic Resona

2009