Enrica Riva

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Per Guldberg, Françoise Rey, Johannes Zschocke et al. · The American Journal of Human Genetics · 1998 · 357 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The LifeCycle Project-EU Child Cohort Network: a federated analysis infrastructure and harmonized data of more than 250,000 children and parents

Vincent W. V. Jaddoe, Janine F. Felix, Anne‐Marie Nybo Andersen et al. · European Journal of Epidemiology · 2020 · 185 citations · Full text

Public Health, Child Health, Population Health Sciences +16

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

Per Guldberg, Valentino Romano, N. Ceratto et al. · Human Molecular Genetics · 1993 · 113 citations

Life Sciences, Genetics, Molecular Genetics +16

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Stefanie Keil, Karen Anjema, Francjan J. van Spronsen et al. · PEDIATRICS · 2013 · 81 citations · Full text

Medicine, Endocrinology, Pharmacotherapy +13

4p^‐ Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern

V. Sgrò, Enrica Riva, Maria Paola Canevini et al. · Epilepsia · 1995 · 53 citations

Medicine, Genetics, Neurology +17