Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

by K S Kim, S Kubota, M Kuriyama, J Fujiyama, I Björkhem, G Eggertsen, Y Seyama
Published 1994-06-01

A rare treatable cause for atypical frontotemporal dementia with multiple fractures in a young female

by Sadanandavalli Retnaswami Chandra, Neeraja Koti, Ganaraja Valakunja Harikrishna, Pooja Mailankody, C Nitin Ramanujam, S Mathuranath Pavagada, Thomas Gregor Issac
Published 2018-01-01

Anaplastic pleomorphic xanthoastrocytoma

by Li-wei SHAO, Fu-lin WANG
Published 2017-08-01

Role of cytology in early diagnosis of cerebrotendinous xanthomas

by Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya
Published 2017-01-01

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

by Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico
Published 2021-08-01

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

by Taboada María, Martínez Diego, Pilo Belén, Jiménez-Escrig Adriano, Robinson Peter N, Sobrido María J
Published 2012-07-01

Cerebrotendinous xanthomatosis: report of two Brazilian brothers Xantomatose cerebrotendínea: relato de dois irmãos brasileiros

by Marcos Christiano Lange, Viviane Flumignan Zétola, Helio A.G. Teive, Rosana H. Scola, Ana Paula Trentin, Jorge A. Zavala, Eduardo R. Pereira, Salmo Raskin, Lineu C. Werneck, Erik A. Sistermans
Published 2004-12-01

Diffuse plane xanthomatosis associated with monoclonal gammopathy Xantomatose plana difusa associada a gamopatia monoclonal

by Aristóteles Rosmaninho, Iolanda Fernandes, Arlindo Guimas, Isabel Amorim, Manuela Selores
Published 2011-08-01

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

by Garuti Rita, Vogel Hans-Peter, Lingesleben Alexandra, Schneider Hauke, Calandra Sebastiano
Published 2010-10-01

Transformation of 5α-cholest-7-en-3β-ol to cholesterol and cholestanol in cerebrotendinous xanthomatosis

by G.S. Tint, Gerald Salen
Published 1974-05-01

Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study

by B Dayal, G Salen, G S Tint, V Toome, S Shefer, E H Mosbach
Published 1978-02-01

Great toe gouty tophus-like lesion revealing extensive tendon xanthomatosis in a asymptomatic hyperuricemic patient

by S Agarwal, M N Akhtar
Published 2013-01-01

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

by Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos
Published 2015-03-01

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

by Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao
Published 2018-12-01

Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis.

by G Salen, V Shore, G S Tint, T Forte, S Shefer, I Horak, E Horak, B Dayal, L Nguyen, A K Batta
Published 1989-09-01

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

by R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra
Published 1996-01-01

A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.

by N. Nakashima, Y. Sakai, H. Sakai, T. Yanase, M. Haji, F. Umeda, S. Koga, T. Hoshita, H. Nawata
Published 1994-04-01

Outcomes of Surgical Management of Xanthelasma Palpebrarum

by Hoon Young Lee, Ung Sik Jin, Kyung Won Minn, Young-Oh Park
Published 2013-07-01

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

by Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari
Published 2021-01-01

Biosynthesis of cholesterol, lanosterol, and delta 7-cholestenol, but not cholestanol, in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis.

by G S Tint, G Salen
Published 1982-05-01