Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses-Reference-Cited by-同舟云学术

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

Published:2021-01-19 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Ferreira Filipa¹^ORCID,Azevedo Luísa²³⁴,Neiva Raquel¹,Sousa Carmen¹,Fonseca Helena¹,Marcão Ana¹,Rocha Hugo¹,Carmona Célia¹,Ramos Sónia¹,Bandeira Anabela⁵,Martins Esmeralda⁵,Campos Teresa⁶,Rodrigues Esmeralda⁶,Garcia Paula⁷,Diogo Luísa⁷,Ferreira Ana Cristina⁸,Sequeira Silvia⁸,Silva Francisco⁹,Rodrigues Luísa¹⁰,Gaspar Ana¹¹,Janeiro Patrícia¹¹,Amorim António²³⁴,Vilarinho Laura¹¹²^ORCID

Affiliation:

1. Newborn Screening, Metabolic and Genetics Unit Department of Human Genetics National Institute of Health Dr Ricardo Jorge Porto Portugal

2. i3S – Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal

3. IPATIMUP – Instituto de Patologia e Imunologia Molecular da Universidade do Porto Porto Portugal

4. FCUP ‐ Faculty of Sciences University of Porto Porto Portugal

5. Inherited Metabolic Disease Reference Center Pediatric Department Centro Hospitalar Universitário do Porto Porto Portugal

6. Metabolic Diseases Unit Pediatric Department University Center São João Hospital ‐ HSJ Porto Portugal

7. Inherited Metabolic Disease Reference Center Pediatric Hospital, Hospital and University Center of Coimbra Coimbra Portugal

8. Metabolic Unit Hospital Dona EstefâniaCentro Hospitalar Universitário Lisboa Central Lisbon Portugal

9. Pediatric Department Hospital Central of Funchal Funchal Portugal

10. Pediatrics Department Hospital of Divino Espírito Santo of Ponta Delgada, EPE, Ponta Delgada Azores Portugal

11. Inherited Metabolic Disease Reference Center Lisbon North University Hospital Center (CHULN), EPE Lisboa Portugal

12. Research and Development Unit Department of Human Genetics National Institute of Health Dr Ricardo Jorge Porto Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1559

Reference103 articles.

1. CpG dinucleotides are mutation hot spots in phenylketonuria

2. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria

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

4. White matter pathology in phenylketonuria☆

5. Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan

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3. Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing;Biomedicines;2023-07-04

4. Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China;Molecular Biology Reports;2022-09-14

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