Genotype‐phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil-Reference-Cited by-同舟云学术

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

Published:2019-03-03 Issue:5 Volume:7 Page:e610
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Vieira Neto Eduardo¹²^ORCID,Laranjeira Francisco³,Quelhas Dulce³⁴,Ribeiro Isaura³⁴,Seabra Alexandre³⁵,Mineiro Nicole³,Carvalho Lilian M.⁶,Lacerda Lúcia³,Ribeiro Márcia G.²

Affiliation:

1. Agência Nacional de Saúde Suplementar Gerência de Monitoramento Assistencial Rio de Janeiro Brazil

2. Serviço de Genética Médica Instituto de Puericultura e Pediatria Martagão Gesteira Universidade Federal do Rio de Janeiro Rio de Janeiro Brazil

3. Centro de Genética Médica Doutor Jacinto Magalhães Unidade de Bioquímica Genética Porto Portugal

4. Unidade Multidisciplinar de Investigação Biomédica Universidade do Porto Porto Portugal

5. Instituto de Ciências Biomédicas Abel Salazar Universidade do Porto Porto Portugal

6. Serviço de Metabologia Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione Rio de Janeiro Brazil

Funder

Ministério da Educação

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.610

Reference57 articles.

1. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria

2. Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

3. Defining tetrahydrobiopterin (BH4)-responsiveness in PKU

4. Genetics of Phenylketonuria: Then and Now

5. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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