Results 111 to 120 of about 7,684 (214)

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

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

Xanthomatosis [PDF]

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

Nationwide survey on cerebrotendinous xanthomatosis in Japan

Journal of Human Genetics, 2017
Y. Sekijima, Shingo Koyama, T. Yoshinaga, M. Koinuma, Y. Inaba   +4 more
semanticscholar   +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

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

Xanthomatosis [PDF]

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

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

Journal of Inherited Metabolic Disease, 2018
M. Amador, M. Masingue, R. Debs, F. Lamari, V. Perlbarg, E. Roze, B. Degos, F. Mochel   +7 more
semanticscholar   +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