Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
Nastassja Himmelreich, Nenad Blau, Beat Thöny
Topics & Concepts
HyperphenylalaninemiaTetrahydrobiopterinBiopterinGeneticsGTP cyclohydrolase IBiologyAlleleMonoamine neurotransmitterInborn error of metabolismDystoniaGeneEndocrinologyCofactorBiochemistryPhenylalanineSerotoninNeuroscienceAmino acidEnzymeReceptorMetabolism and Genetic DisordersBiochemical and Molecular ResearchFolate and B Vitamins Research