Roberta Trunzo

Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness

Roberta Trunzo, Rosa Santacroce, Giovanna D’Andrea et al. · Clinica Chimica Acta · 2015 · 28 citations

Life Sciences, Genetics, Molecular Genetics +16

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk et al. · Acta Neuropathologica · 2023 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <scp> <i>ZNFX1</i> </scp> variants are associated with a spectrum of immuno‐hematological abnormalities

Salem Alawbathani, Ana Westenberger, Natalia Ordonez‐Herrera et al. · Clinical Genetics · 2021 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

Roberta Trunzo, Rosa Santacroce, Nan Shen et al. · Gene · 2016 · 18 citations

Life Sciences, Biochemistry, Molecular Genetics +14

Mutation analysis in hyperphenylalaninemia patients from South Italy

Roberta Trunzo, Rosa Santacroce, Giovanna D’Andrea et al. · Clinical Biochemistry · 2013 · 15 citations

Life Sciences, Genetics, Molecular Genetics +14