Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation
C Li, Y Sun, W Guo, W Jiang, W Zhou, Z Chen… - Clinica Chimica …, 2024 - Elsevier
GATM-related Fanconi renotubular syndrome 1 (FRTS1) is a form of renal Fanconi
syndrome (RFS), which is a disorder of solute and water reabsorption caused by defects in …
syndrome (RFS), which is a disorder of solute and water reabsorption caused by defects in …