Results 121 to 130 of about 7,425 (220)

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Xanthomatosis [PDF]

Proceedings of the Royal Society of Medicine, 1947
C. P. Petch, D.M. Wesselow
openaire   +1 more source

Vitiligo-associated jejunal xanthomatosis leading to small bowel obstruction. [PDF]

Ann Med Surg (Lond)
Jha R, Sah BC, Maharjan N, Aryal S, Shrestha S, Banepali N.   +5 more
europepmc   +1 more source

Total cholesterol and lipoprotein composition are associated with dry eye disease in Korean women [PDF]

, 2013

core   +1 more source

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]

JCEM Case Rep
Roy A, Roy SK, Das S.
europepmc   +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

The phenomenology and natural history of idiopathic lower cranial dystonia [PDF]

, 2014

core   +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

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

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