Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Fanconi Syndrome[original query] |
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The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes 2001 Sep 50 (9): 2047-52. Bingham C, Ellard S, Nicholls A J, Pennock C A, Allen J, James A J, Satchell S C, Salzmann M B, Hattersley A |
A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome. Pharmacogenetics and genomics 2015 Feb 25 (2): 82-92. Dahlin Amber, Wittwer Matthias, de la Cruz Melanie, Woo Jonathan M, Bam Rujuta, Scharen-Guivel Valeska, Flaherty John, Ray Adrian S, Cihlar Tomas, Gupta Samir K, Giacomini Kathleen |
Targeted resequencing of phosphorus metabolism?related genes in 86 patients with hypophosphatemic rickets/osteomalacia. International journal of molecular medicine 2018 6 42 (3): 1603-1614. Gu Jiemei, Wang Chun, Zhang Hao, Yue Hua, Hu Weiwei, He Jinwei, Fu Wenzhen, Zhang Zhenl |
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. Frontiers in pediatrics 2019 4 7 89. Najafi Maryam, Tamandani Dor Mohammad Kordi, Azarfar Anoush, Bakey Zeineb, Behjati Farkhondeh, Antony Dinu, Schüle Isabel, Sadeghi-Bojd Simin, Karimiani Ehsan Ghayoor, Schmidts Miri |
Molecular based newborn screening in Germany: Follow-up for cystinosis. Molecular genetics and metabolism reports 2019 10 21 100514. Hohenfellner Katharina, Bergmann Carsten, Fleige Tobias, Janzen Nils, Burggraf Siegfried, Olgemöller Bernd, Gahl William A, Czibere Ludwig, Froschauer Sonja, Röschinger Wulf, Vill Katharina, Harms Erik, Nennstiel U |
The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. Journal of endocrinological investigation 2020 Jul . Jiang Y, Li X, Feng J, Li M, Wang O, Xing X-P, Xia W |
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