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pro vyhledávání: '"Rhea Singal"'
Autor:
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 341-353 (2024)
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood an
Externí odkaz:
https://doaj.org/article/ed57ef7a83974f628ba4c03ecfbbcf4e
