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Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Nastassja Himmelreich1, Nenad Blau2, Beat Thöny3

  • 1Center for Child and Adolescent Medicine, Dietmar-Hopp Metabolic Center, Division 1, Heidelberg, Germany.

Molecular Genetics and Metabolism
|April 27, 2021
PubMed

Keywords:
GenotypeHyperphenylalaninemiaTetrahydrobiopterinVariants database

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