Page last updated: 2024-10-23

baclofen and Niemann-Pick Disease, Type C

baclofen 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 Excerpts

ExcerptRelevanceReference
"His severe spasticity made positioning and care difficult, and intense pain required multiple hospitalizations."5.51The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C. ( Buxton, K; Nimec, DL; Stone, SS; Ubeda Tikkanen, A; Ullrich, CK, 2019)
"His severe spasticity made positioning and care difficult, and intense pain required multiple hospitalizations."1.51The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C. ( Buxton, K; Nimec, DL; Stone, SS; Ubeda Tikkanen, A; Ullrich, CK, 2019)

Research

Studies (1)

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

Authors

AuthorsStudies
Ubeda Tikkanen, A1
Buxton, K1
Ullrich, CK1
Stone, SS1
Nimec, DL1

Other Studies

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

ArticleYear
The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C.
    Pediatrics, 2019, Volume: 144, Issue:5

    Topics: Baclofen; Child; Fatal Outcome; Humans; Infusion Pumps, Implantable; Injections, Spinal; Male; Muscl

2019