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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/molecular-epidemiology-genotype-phenotype-correlation-and-bh4-responsiveness-in/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Luis Aldámiz‐Echevarría,Marta Llarena,María A. Bueno,Jaime Dalmau,Isidro Vitoria,Ana Fernández‐Marmiesse,Fernando Andrade,Javier Blasco‐Alonso,Carlos Losilla Alcalde,David Gil,María C García,Domingo González‐Lamuño,Mónica Ruiz,María A Ruiz,Luis Peña Quintana,David González,Félix Sánchez‐Valverde,Lourdes R. Desviat,Belén Pérez,María L. Couce |
| Citations | 71 |
| DOI | 10.1038/jhg.2016.38 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/jhg201638.pdf |
| OpenAlex ID | https://openalex.org/W2343453298 |
| PMID | 27121329 |
| Type | article |
| Year | 2016 |

## Paper authors

- [Javier Blasco‐Alonso](https://scholariq.org/researchers/javier-blasco-alonso/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Folate and B Vitamins Research](https://scholariq.org/topics/folate-and-b-vitamins-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.