Results 91 to 100 of about 4,802 (174)

Xanthomatosis [PDF]

Proceedings of the Royal Society of Medicine, 1949
P. M. Smythe, R. H. Dobbs
openaire   +1 more source

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

Primary Familial Xanthomatosis and Biliary Xanthomatosis (Biliary Cirrhosis with Xanthomatosis)1

Journal of Investigative Dermatology, 1950
Lever, Walter F., MacLean, James G.
openaire   +1 more source

Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time. [PDF]

Indian Dermatol Online J
Suresh P, Dev PP, Khunger N, Sharma S.
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

A Rare Case of Bilateral Xanthomatosis of Tendon of Achilles: A Case Report. [PDF]

J Orthop Case Rep
Thakare A, Bhandari H, Patwa B.
europepmc   +1 more source

Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. [PDF]

NPJ Genom Med
Huang Y, Gao Y, Duan Z, Jia X, Sun Y, Liu C, Huang H, Liu J, Pan S, Jin X, Fang M.   +10 more
europepmc   +1 more source

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]

Orphanet J Rare Dis
Del Monte MA, Hanson J, Bonnen PE.
europepmc   +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

Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Mov Disord Clin Pract
Salamon A, Szpisjak L, Klivényi P, Zádori D.   +3 more
europepmc   +1 more source