The complete European guidelines on phenylketonuria: diagnosis and treatment
2017 · Orphanet Journal of Rare Diseases · 806 citations
https://doi.org/10.1186/s13023-017-0685-2
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Amaya Bélanger-Quintana
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Amaya Bélanger-Quintana is an academic researcher from Instituto Ramón y Cajal de Investigación Sanitaria. The author has contributed to research in topics: Metabolism and Genetic Disorders & Diet and metabolism studies & Mitochondrial Function and Pathology. The author has an h-index of 26, co-authored 80 publications.
ORCID: 0000-0003-0102-8956Papers by this author
worksThe Genetic Landscape and Epidemiology of Phenylketonuria
2020 · The American Journal of Human Genetics · 351 citations
https://doi.org/10.1016/j.ajhg.2020.06.006
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
2019 · Molecular Genetics and Metabolism · 67 citations
https://doi.org/10.1016/j.ymgme.2019.04.004
Pathogenic variants of <i>DNAJC12</i> and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
2020 · Human Mutation · 36 citations
https://doi.org/10.1002/humu.24026
European guidelines on diagnosis and treatment of phenylketonuria: First revision
2025 · Molecular Genetics and Metabolism · 28 citations
https://doi.org/10.1016/j.ymgme.2025.109125
Dietary practices in propionic acidemia: A European survey
2017 · Molecular Genetics and Metabolism Reports · 22 citations
https://doi.org/10.1016/j.ymgmr.2017.09.002
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