María Amor Bueno-Delgado

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce et al. · Orphanet Journal of Rare Diseases · 2014 · 52 citations · Full text

Life Sciences, Nephrology, Pediatrics +15

Pathogenic variants of <i>DNAJC12</i> and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

Diana Gallego, Fátima Leal, Alejandra Gámez et al. · Human Mutation · 2020 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Early feeding practices in infants with phenylketonuria across Europe

Alex Pinto, Sandra Adams, Kirsten Ahring et al. · Molecular Genetics and Metabolism Reports · 2018 · 30 citations · Full text

Agriculture, Nutrition, Pediatrics +17

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

Rosa Navarrete, Fátima Leal, Ana Vega et al. · European Journal of Human Genetics · 2019 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Weaning practices in phenylketonuria vary between health professionals in Europe

Alex Pinto, Sandra Adams, Kirsten Ahring et al. · Molecular Genetics and Metabolism Reports · 2018 · 18 citations · Full text

Agriculture, Nutrition, Pediatrics +16