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Orphanet Journal of Rare Diseases|July 30, 2015
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulationDaniela Melis, Alessandro Rossi, Rosario Pivonello, et al.Journal of Inherited Metabolic Disease|February 17, 2010
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approachFrancesca Catanzano, Daniela Ombrone, Cristina Di Stefano, et al.European Journal of Pediatrics|December 17, 2003
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statementsGregory A Grabowski, Generoso Andria, Antonio Baldellou, et al.European Journal of Pediatrics|December 17, 2003
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoringAntonio Baldellou, Generoso Andria, Pauline E Campbell, et al.European Journal of Medical Genetics|June 27, 2007
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato Lonardo, Giancarlo Parenti, Daniela Varela Luquetti, et al.Journal of Inherited Metabolic Disease|December 22, 2011
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry diseaseCaterina Porto, Antonio Pisani, Margherita Rosa, et al.American Journal of Medical Genetics. Part A|December 8, 2004
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and reviewMassimiliano Rossi, Pietro Vajro, Raffaele Iorio, et al.Orphanet Journal of Rare Diseases|March 12, 2015
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experienceIris Scala, Daniela Concolino, Roberto Della Casa, et al.The Journal of Pediatrics|May 6, 2004
Brain damage in glycogen storage disease type IDaniela Melis, Giancarlo Parenti, Roberto Della Casa, et al.Nutrients|May 24, 2013
Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemiaBruno Zappacosta, Pierpaolo Mastroiacovo, Silvia Persichilli, et al.Pageof 9