Mevalonate kinase deficiency: a survey of 50 patients - Bader-Meunier, Brigitte; Florkin, Benoit; Sibilia, Jean; Acquaviva, Cécile; Hachulla, Eric; Grateau, Gilles; Richer, Olivier; Farber, Claire Michèle; Fischbach, Michel; Hentgen, Véronique; Jego, Patrick; Laroche, Cécile; et al. (Pediatrics (Evanston), 2011)
Keywords: Female; Humans; Infant; Infant, Newborn; Inflammation - diagnosis; Male; Metabolism, Inborn Errors - diagnosis; Phosphotransferases (Alcohol Group Acceptor) - deficiency; Retrospective Studies