Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Diarrhea and CYP27A1[original query] |
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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 |
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 |
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