C. Caruba

The severity of phenotype linked to <i>SUCLG1</i> mutations could be correlated with residual amount of SUCLG1 protein

Cécile Rouzier, Sandie Le Guédard-Méreuze, Konstantina Fragaki et al. · Journal of Medical Genetics · 2010 · 54 citations · Full text

Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry

Laurent Bonesso, Monique Piraud, C. Caruba et al. · Orphanet Journal of Rare Diseases · 2014 · 39 citations · Full text

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

Konstantina Fragaki, Aline Cano, Jean‐François Benoist et al. · Mitochondrion · 2011 · 36 citations

Heart Failure, Propionic Acidemia, Cardiovascular Disease +8

Effects of age, malnutrition and refeeding on the expression and secretion of ghrelin

S. Schneider, Rima Al-Jaouni, C. Caruba et al. · Clinical Nutrition · 2008 · 27 citations

Obesity, Nutrition, Animal Physiology +8

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

Konstantina Fragaki, Vincent Procaccio, Sylvie Bannwarth et al. · Mitochondrion · 2009 · 19 citations

Biology, Mitochondrial Function, Genetic Disorder +5