Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

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 and progresses to end‐stage kidney disease (ESKD) in adult...

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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2024-09-01
coleção:	JIMD Reports
Assuntos:	arginine‐glycine amidinotransferase (AGAT) chronic kidney disease creatine Fanconi syndrome GATM guanidinoacetate
Acesso em linha:	https://doi.org/10.1002/jmd2.12442
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