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Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Reichold, M., Klootwijk, E. D., Reinders, Jörg , Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., Sterner, C., Doellerer, H., Renner, K., Oefner, Peter J. , Dettmer, Katja , Simbuerger, J., Witzgall, R., Stanescu, H. C., Dumitriu, S., Iancu, D., Patel, V., Mozere, M., Tekman, M., Jaureguiberry, G., Issler, N., Kesselheim, A., Walsh, S. B., Gale, D. P., Howie, A. J., Martins, J. R., Hall, A. M., Kasgharian, M., O'Brien, K., Ferreira, C. R., Atwal, P. S., Jain, M., Hammers, A., Charles-Edwards, G., Choe, C. U., Isbrandt, D., Cebrian-Serrano, A., Davies, B., Sandford, R. N., Pugh, C., Konecki, D. S., Povey, S., Bockenhauer, D., Lichter-Konecki, U., Gahl, W. A., Unwin, R. J., Warth, Richard and Kleta, R. (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J. Am. Soc. Nephrol. 29 (7), pp. 1849-1858.

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Other URL: http://jasn.asnjournals.org/content/29/7/1849.long


Abstract

Background: For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. Methods: We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage ...

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Item type:Article
Date:July 2018
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth
Identification Number:
ValueType
29654216PubMed ID
Keywords:AGAT; fibrosis; mitochondriopathy; protein deposits; tubulopathy
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:37553
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