Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism[S]

by Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici
Published 2016-03-01

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

by Angelika Mohn, Nella Polidori, Chiara Aiello, Cristiano Rizzo, Cosimo Giannini, Francesco Chiarelli, Marco Cappa
Published 2021-05-01

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

by Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
Published 2021-01-01

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

by Ilaria Cicalini, Damiana Pieragostino, Cristiano Rizzo, Sara Verrocchio, Daniela Semeraro, Mirco Zucchelli, Silvia Di Michele, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Ines Bucci, Claudia Rossi
Published 2021-02-01

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy

by Claudia Rossi, Ilaria Cicalini, Cristiano Rizzo, Mirco Zucchelli, Ada Consalvo, Silvia Valentinuzzi, Daniela Semeraro, Giorgia Gasparroni, Patrizia Brindisino, Diego Gazzolo, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Damiana Pieragostino
Published 2020-05-01

Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype.

by Pamela Vernocchi, Federica Del Chierico, Alessandra Russo, Fabio Majo, Martina Rossitto, Mariacristina Valerio, Luca Casadei, Antonietta La Storia, Francesca De Filippis, Cristiano Rizzo, Cesare Manetti, Paola Paci, Danilo Ercolini, Federico Marini, Ersilia Vita Fiscarelli, Bruno Dallapiccola, Vincenzina Lucidi, Alfredo Miccheli, Lorenza Putignani
Published 2018-01-01