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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Oct 2, 2023. (Total: 221654Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Cerebrotendinous Xanthomatosis[original query]
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
PloS one 2012 7 (4): e35333.
Diekstra Frank P, Saris Christiaan G J, van Rheenen Wouter, Franke Lude, Jansen Ritsert C, van Es Michael A, van Vught Paul W J, Blauw Hylke M, Groen Ewout J N, Horvath Steve, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden Andre G, Robberecht Wim, Andersen Peter M, Melki Judith, Meininger Vincent, Hardiman Orla, Landers John E, Brown Robert H, Shatunov Aleksey, Shaw Christopher E, Leigh P Nigel, Al-Chalabi Ammar, Ophoff Roel A, van den Berg Leonard H, Veldink Jan
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
Molecular genetics and metabolism reports 2015 Jun 3 33-5.
Dutta Atanu Kumar, Danda Sumita, Muthusamy Karthik, Alexander Mathew, Sudhakar Sniya Valsa, Hansdak Samuel, Bandyopadhyay Rini, Bakhya Shree G B, Rekha
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Journal of inherited metabolic disease 2017 9 41 (4): 641-646.
Stelten Bianca M L, Bonnot Olivier, Huidekoper Hidde H, van Spronsen Francjan J, van Hasselt Peter M, Kluijtmans Leo A J, Wevers Ron A, Verrips A
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Clinical genetics 2021 10 101 (2): 190-207.
Badura-Stronka Magdalena, Hirschfeld Adam Sebastian, Winczewska-Wiktor Anna, Budzy?ska Edyta, Jakubiuk-Tomaszuk Anna, Piontek Anita, Steinborn Barbara, Kozubski Wojcie
Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2021 10 25 (5): 269.e1-269.e6.
Atilla Huban, Coskun Turgay, Elibol Bulent, Kadayifcilar Sibel, Altinel Serdar,
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.
Journal of clinical lipidology 2020 Dec .
Zhang Ping, Zhao Jing, Peng Xiao-Min, Qian Yan-Yan, Zhao Xue-Mei, Zhou Wen-Hao, Wang Jian-She, Wu Bing-Bing, Wang Hui-J
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Orphanet journal of rare diseases 2022 12 17 (1): 434.
Fernández-Eulate Gorka, Martin Gilles C, Dureau Pascal, Speeg-Spatz Claude, Brassier Anais, Gillard Perrine, Bremond-Gignac Dominique, Thouvenin Dominique, Pagan Cecile, Lamari Foudil, Nadjar Ya
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Orphanet journal of rare diseases 2023 1 18 (1): 13.
Pramparo Tiziano, Steiner Robert D, Rodems Steve, Jenkinson Cel
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