Page last updated: 2024-09-03

pristanic acid and Polyneuropathies

pristanic acid has been researched along with Polyneuropathies in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Beaulieu, CL; Boycott, KM; Bulman, DE; Ferdinandusse, S; Geraghty, MT; Gottlieb, CC; Lawrence, SE; Mackenzie, A; Majewski, J; McMillan, HJ; Mooyer, PA; Schwartzentruber, J; Wanders, RJ; Worthylake, T1
Denis, S; Dillmann, U; Duran, M; Ferdinandusse, S; Haas, D; Kostopoulos, P; Marziniak, M; Overmars, H; Reith, W; Rusch, H; Wanders, RJ1

Other Studies

2 other study(ies) available for pristanic acid and Polyneuropathies

ArticleYear
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
    Orphanet journal of rare diseases, 2012, Nov-22, Volume: 7

    Topics: 17-Hydroxysteroid Dehydrogenases; Cerebellar Ataxia; Fatty Acids; Hearing Loss, Sensorineural; Heterozygote; Hydro-Lyases; Mutation; Peroxisomal Multifunctional Protein-2; Phytanic Acid; Polyneuropathies; Retinitis Pigmentosa

2012
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
    American journal of human genetics, 2006, Volume: 78, Issue:6

    Topics: Adult; Carrier Proteins; Codon, Nonsense; Dementia, Vascular; Dystonia; Fatty Acids; Frameshift Mutation; Glucuronides; Humans; Magnetic Resonance Imaging; Male; Polyneuropathies; Pons; Syndrome; Thalamus; Torticollis

2006