Diego Martinelli

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 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15

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 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack et al. · Brain · 2012 · 216 citations · Full text

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Elena Mazzone, Diego Martinelli, Angela Berardinelli et al. · Neuromuscular Disorders · 2010 · 206 citations

Physical Activity, Kinesiology, Health Sciences +14