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, +13

The American Journal of Human Genetics

Metabolic SyndromeMendelian DisorderBiochemistryGenetic DisorderMedicine +9

Autism and Phenylketonuria

Sabrina Baieli, Concetta Meli, Agata Fiumara, +1

Journal of Autism and Developmental Disorders

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

Stefanie Keil, Karen Anjema, Francjan J. van Spronsen, +17

PEDIATRICS

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Martijn Kranendijk, Eduard A. Struys, K. Michael Gibson, +20

Human Mutation

UrologyGenetic DisorderMedicineGeneticsMetabolic Disease +11

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Sergio Salvi, Filippo M. Santorelli, Enrico Bertini, +8

Neurology

Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

Vincenzo Leuzzi, Ca Carducci, Simone Pozzessere, +11

Clinical Genetics

Neurological DisorderGeneticsClinical NeurologyDiagnosisPathology +22

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, +47

International Journal of Neonatal Screening

NeonatologyFetal MedicineDiagnosisNewborn ScreeningNeonatal Genomics +20

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

François Feillet, L. Clarke, Concetta Meli, +8

Clinical Pharmacokinetics

Renal FunctionMedicineChronic Kidney DiseasePharmacotherapyNephrology +2

Clinical manifestations and management of four children with Pearson syndrome

Manuela Tumino, Concetta Meli, Piero Farruggia, +9

American Journal of Medical Genetics Part A

Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

Silvia Funghini, Janita Thusberg, Marco Spada, +10

Gene

Heterogeneous CohortMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +5