C. Castana

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

E. Bertini, R. Carrozzo, F. Santorelli, 2011, neurogenetics.

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

F. Pieruzzi, C. Autore, C. Zoccali, 2018, International journal of molecular sciences.

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

A. Angeloni, I. Bucci, C. Dionisi-Vici, 2022, International journal of neonatal screening.

Inhibitory influences of vagal afferences on the oesophageal EMG peristaltic pattern.

F. Mulè, R. Serio, A. Postorino, 1987, Archives internationales de physiologie et de biochimie.

Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers.

M. van Gijn, I. Ceccherini, L. Obici, 2019, Rheumatology.

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

Kathleen S. McGreevy, S. Funghini, D. Ombrone, 2016 .

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

F. Vigevano, D. Martinelli, R. Moavero, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CARDIAC INVOLVEMENT IN A PATIENT WITH MEVALONIC ACIDURIA INTERESSAMENTO CARDIACO IN UN PAZIENTE CON MEVALONICO ACIDURIA

L. Iapichino, M. A. Calamia, M. Caserta, 2007 .

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

M. van Gijn, I. Ceccherini, L. Obici, 2019, Rheumatology.

Clinical manifestations and management of four children with Pearson syndrome

A. Di Cataldo, L. Lo Nigro, M. Faraci, 2011, American journal of medical genetics. Part A.