Genotype‐phenotype correlations and BH(4) estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil

BACKGROUND: Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes in phenylketonuria (PKU). The most used parameters for evaluating phenotype in PKU are pretreatment phenylalanine (Phe) levels, tolerance f...

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Detalles Bibliográficos
Autores principales: Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M., Lacerda, Lúcia, Ribeiro, Márcia G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503030/
https://www.ncbi.nlm.nih.gov/pubmed/30829006
http://dx.doi.org/10.1002/mgg3.610

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