Results 121 to 130 of about 6,190 (205)

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

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

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

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

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 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

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

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