Litcius/Paper detail

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

April Adams, Moisés Ó. Fiesco-Roa, Ka Sing Wong, Gabrielle P. Jenkins, Jennifer Malinowski, Olivia M. Demarest, Paul G. Rothberg, Judith A. Hobert

2023Genetics in Medicine29 citationsDOIOpen Access PDF

Topics & Concepts

Medical geneticsPhenylalanine hydroxylaseGenomicsMedicineGeneticsBioinformaticsPhenylalanineBiologyGenomeGeneAmino acidMetabolism and Genetic DisordersFolate and B Vitamins ResearchGenomics and Rare Diseases