Genetics in Medicine · 2014 · 722 citations · 2 references
MedicineEndocrinologyPediatricsPediatric EndocrinologyAmino Acid Metabolism DisordersEnzyme DeficienciesMetabolic Pathway DefectsEnzyme Deficiency DiagnosticsEnzyme Deficiency In Amino Acid MetabolismPhenylalanine HydroxylationPhenylalanine MetabolismTetrahydrobiopterin Deficiency
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