Concetta Meli

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 · 352 citations · Full text

Metabolic Syndrome, Mendelian Disorder, Biochemistry +11

Autism and Phenylketonuria

Sabrina Baieli, Concetta Meli, Agata Fiumara et al. · Journal of Autism and Developmental Disorders · 2003 · 129 citations

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 · 79 citations · Full text

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Martijn Kranendijk, Eduard A. Struys, K. Michael Gibson et al. · Human Mutation · 2009 · 73 citations

Urology, Genetic Disorder, Medicine +13

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Sergio Salvi, Filippo M. Santorelli, Enrico Bertini et al. · Neurology · 2001 · 68 citations