Browsing by Subject "Hypophosphatemia"
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Evaluation of Clinical Characteristics of Vitamin D Dependent Rickets Type 1 (VDDR-1) Patients and Importance of Early Diagnosis
(Galenos Publ House, 2022)Introduction: Vitamin D-dependent rickets type 1 (VDDR-1) is an autosomal recessive disorder caused by 1-a-hydroxylase enzyme deficiency. This rare disease occurs due to biallelic pathogenic variants in the CYP27B1 gene. ...