Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia - Tornero, C.; Navarro-Compán, V.; Buño, A.; Heath, K. E.; Díaz-Almirón, M.; Balsa, A.; Tenorio, J. A.; Quer, J.; Aguado, P. (Orphanet journal of rare diseases, 2022)
Keywords: Adult; Alkaline phosphatase; Alkaline Phosphatase - genetics; ALPL; Biological markers; Bone and Bones; Diagnosis; Electrolytes; Evaluation; Health aspects; Human Genetics; Humans; Hypophosphatasaemia; Hypophosphatasia; Hypophosphatasia - diagnosis; Hypophosphatasia - epidemiology; Hypophosphatasia - genetics; Machine Learning; Medicine; Medicine & Public Health; Metabolic bone diseases; Pharmacology/Toxicology; Pyridoxal Phosphate; Rare bone diseases and skeletal dysplasias; Risk factors; Spain; Alkaline phosphatase; Metabolic bone diseases; Hypophosphatasia; Hypophosphatasaemia; ALPL