Newborn Screening in Japan—2021
Toshihiro Tajima
Abstract
Japan's Newborn Mass Screening (NBS) was started in 1977 for amino acid metabolism disorders (phenylketonuria (PKU), homocystinuria, maple syrup urine, histidineemia (discontinued in 1993)) and galactosemia at the national level as a national project [...].
Topics & Concepts
HomocystinuriaMaple syrup urine diseaseGalactosemiaNewborn screeningPediatricsMedicineAmino acid metabolismUrineInternal medicineMethionineAmino acidChemistryMetabolismBiochemistryGalactoseLeucineMetabolism and Genetic DisordersGenomics and Rare DiseasesFolate and B Vitamins Research