Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia - Alvarez, Sofía; Ocampo, Amelia; Caso, Patricia C.; del Real, Alvaro; Puente, Nuria; Vega, Ana I.; Riancho-Zarrabeitia, Leyre; García-Unzueta, María T.; Riancho, José A. (Osteoporosis international, 2025)
Keywords: Adolescent; Adult; Aged; Alkaline phosphatase; Alkaline Phosphatase - blood; Alkaline Phosphatase - deficiency; Alkaline Phosphatase - genetics; Biomarkers - blood; Case-Control Studies; Dietary supplements; Endocrinology; Female; Genetic testing; Humans; Hypophosphatasia; Hypophosphatasia - blood; Hypophosphatasia - diagnosis; Hypophosphatasia - genetics; Laboratories; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Orthopedics; Phosphatase; Point mutation; Pyridoxal Phosphate - blood; Pyridoxine; Pyridoxine hydrochloride; Rheumatology; Sensitivity and Specificity; Short Communication; Software; Vitamin B 6 - administration & dosage; Vitamin B6; Young Adult; United States--US; Spain; Pyridoxal phosphate; Alkaline phosphatase; Diagnosis; Hypophosphatasia; Vitamin B6