Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Menkes Disease[original query] |
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Copper transporting P-type ATPases and human disease. Journal of bioenergetics and biomembranes 2003 1 34 (5): 333-8. Cox Diane W, Moore Steven D |
A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment. Disease models & mechanisms 2009 12 3 (1-2): 84-91. Bahadorani Sepehr, Bahadorani Peyman, Marcon Edyta, Walker David W, Hilliker Arthur |
Predictable and precise template-free CRISPR editing of pathogenic variants. Nature 2018 11 563 (7733): 646-651. Shen Max W, Arbab Mandana, Hsu Jonathan Y, Worstell Daniel, Culbertson Sannie J, Krabbe Olga, Cassa Christopher A, Liu David R, Gifford David K, Sherwood Richard |
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis. Pediatrics international : official journal of the Japan Pediatric Society 2019 2 61 (4): 345-350. Fujisawa Chie, Kodama Hiroko, Hiroki Tomoko, Akasaka Yoshikiyo, Hamanoue Mako |
Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease. Urology 2019 11 136 238-240. Canalichio Katie L, Chisholm Karen M, Lendvay Thomas |
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes. Journal of inherited metabolic disease 2023 1 46 (2): 163-173. De Feyter S, Beyens A, Callewaert |
- Page last reviewed:Feb 1, 2024
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