Results 131 to 140 of about 16,041 (210)

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond. [PDF]

Metab Brain Dis
Calisgan K, Zubarioglu T, İsat E, Babazade H, Akca-Yesil S, Akbulut S, Uygur E, Keskin V, Cirkin B, Durcan G, Dogangun B, Cansever MS, Aktuglu-Zeybek AC, Kiykim E.   +13 more
europepmc   +1 more source

From Sunlight to Signaling: Evolutionary Integration of Vitamin D and Sterol Metabolism. [PDF]

Metabolites
Raczyk M, Carlberg C.
europepmc   +1 more source

Bile acid signaling, metabolism, and aging. [PDF]

Liver Res
Sun J, Zhang S, Jin L, Huang W.
europepmc   +1 more source

Intracellular cholesterol transport proteins: roles in health and disease [PDF]

, 2016
Graham, Annette, Soffientini, Ugo
core   +1 more source

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
europepmc   +1 more source

Directed evolution of the pathogenic mold <i>Aspergillus fumigatus</i> reveals novel genes contributing to triazole resistance. [PDF]

Antimicrob Agents Chemother
Handelman M, Sarkar A, Varshavsky A, Shadkchan Y, Chen X, Wright GD, Delbaje E, Laflamme B, Fallah S, Côté E, Robbins N, Fernanda Dos Reis T, Goldman GH, Cowen LE, Osherov N.   +14 more
europepmc   +1 more source

Heterozygous <i>CYP27B1</i> c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans. [PDF]

Front Physiol
Girard L, Fortin CA, Plourde R, Desgagné V, Guérin R, Albert C, Desmeules M, Perron P, Bouchard L.   +8 more
europepmc   +1 more source

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
Jalal L, Basaria AAA, Yokolo H.
europepmc   +1 more source

Regulatory roles of bioactive lipids in vascular homeostasis and remodeling. [PDF]

Med Rev (2021)
Yang J, Xiao H, Zhang Z, Zhang L, Zhang X.   +4 more
europepmc   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]

J Inherit Metab Dis
Clayton PT, Hirachan R, Murphy E.
europepmc   +1 more source