Human Genome Epidemiology Literature Finder
|
Records 1 - 5 (of 5 Records) |
| Query Trace: Cataract and CYP27A1[original query] |
|---|
| 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 |
| 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, |
| 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 |
| Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil. Clinical genetics 2024 8 . Helena Fussiger, Pedro Lucas G S B Lima, Paulo V S Souza, Fernando Freua, Antonette S E Husny, Emília K E A Leão, Pedro Braga-Neto, Fernando Kok, David S Lynch, Jonas A M Saute, Paulo R Nóbre |
- Page last reviewed:Feb 1, 2024
- Content source: