Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience - Erdol, Sahin; Kocak, Tugba Akbey; Bilgin, Huseyin (Journal of Pediatric Endocrinology & Metabolism, 2023)
Keywords: Biotinidase - genetics; biotinidase deficiency; Biotinidase Deficiency - diagnosis; Biotinidase Deficiency - epidemiology; Biotinidase Deficiency - genetics; Breath tests; Child; Enzymes; fluorometric method; Humans; Infant, Newborn; Medical screening; Metabolism; Mutation; Neonatal Screening; newborn; Retrospective Studies; biotinidase deficiency; fluorometric method; newborn