[Type 1 hypocalcemic pseudo-deficiency rickets caused by renal 25-hydroxycholecalciferol 1-hydroxylase deficiency (apropos of 1 case)].
D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis*; D007223:Infant; D007668:Kidney / Q000201:enzymology*; D013250:Steroid Hydroxylases / Q000172:deficiency*
D013250:Steroid Hydroxylases; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Rachitisme pseudocarentiel hypocalcémique de type 1 par déficit en 25 hydroxycholécalciférol 1 alpha hydroxylase rénale (à propos d'une observation).