Association of Familial Fanconi Syndrome with a Novel GATM Variant

Fanconi syndrome is a disorder of the proximal renal tubule. Recently, advanced genetic analysis technology has revealed that several genes cause familial Fanconi syndrome. We identified a family with autosomal dominant Fanconi syndrome and chronic kidney disease with a novel glycine amidinotransfer...

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Veröffentlicht in:	The Tohoku Journal of Experimental Medicine 2023, Vol.260(4), pp.337-340
Hauptverfasser:	Kudo, Hiroki, Suzuki, Ryota, Kondo, Atsushi, Nozu, Kandai, Nakamura, Yuki, Mikami, Hitoshi, Soma, Jun, Nakaya, Izaya
Format:	Artikel
Sprache:	eng
Schlagworte:	chronic kidney disease end-stage renal disease glucosuria hypophosphatemia mitochondrial enzyme glycine amidinotransferase
Online-Zugang:	Volltext
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