Carlo Dionisi‐Vici

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 529 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Clinical Features of 52 Neonates with Hyperinsulinism

Pascale de Lonlay-Debeney, F Poggi-Travert, Jean‐Christophe Fournet et al. · New England Journal of Medicine · 1999 · 294 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 270 citations · Full text

Life Sciences, Internal Medicine, Clinical Biochemistry +9

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

Life Sciences, Nephrology, Urology +14