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Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

Tetrahydrobiopterin (BH(4)) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine reductase (DHPR, EC 1.5.1.34) is an enzyme involved in the BH(4)...

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Detalles Bibliográficos
Autores principales:	Lourenço, Charles Marques, Dovidio, Janaina, Lopes, Isabela F., Silva, Laís C., Almeida, Marcela, Vagnini, Laura, Fonseca, Jacqueline, Carneiro, Zumira A., Thöny, Beat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411105/ https://www.ncbi.nlm.nih.gov/pubmed/34485013 http://dx.doi.org/10.1002/jmd2.12224

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