Enrico Zammarchi

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 670 citations · Full text

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 506 citations

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino et al. · Journal of Biological Chemistry · 2002 · 234 citations · Full text

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon et al. · The American Journal of Human Genetics · 1997 · 232 citations · Full text

X-linked Gene G4.5, Cardiac Muscle, Cardiomyopathy +9

Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini et al. · Clinical Chemistry · 2007 · 126 citations · Full text