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Journal of Pediatric Hematology/Oncology|December 10, 2003
Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapyJohanna Svahn, Maria Cristina Schiaffino, Ubaldo Caruso, et al.
Pediatric Research|March 21, 2003
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometryCristiano Rizzo, Sara Boenzi, Ronald J A Wanders, et al.
Clinical Chemistry and Laboratory Medicine|April 22, 2005
The secretion of ibuprofen metabolites interferes with the capillary chromatography of urinary homovanillic acid and 4-hydroxy-3-methoxymandelic acid in neuroblastoma diagnosisIsabella Levreri, Ubaldo Caruso, Franca Deiana, et al.
Neurogenetics|August 9, 2005
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutationMaria C Schiaffino, Carlo Bellini, Laura Costabello, et al.
The Journal of Pediatrics|April 16, 2002
Inborn errors of metabolism in the Italian pediatric population: a national retrospective surveyCarlo Dionisi-Vici, Cristiano Rizzo, Alberto B Burlina, et al.
Molecular Genetics and Metabolism|July 11, 2006
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentationMaja Di Rocco, Ubaldo Caruso, Egill Briem, et al.
Italian Journal of Pediatrics|October 26, 2012
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotypeCristina Lovera, Francesco Porta, Anna Caciotti, et al.
Epilepsia|June 13, 2002
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic featuresRoberta Biancheri, Roberto Cerone, Andrea Rossi, et al.
Italian Journal of Pediatrics|May 28, 2013
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiencyFrancesca Santarelli, Michela Cassanello, Ausilia Enea, et al.
Developmental Medicine and Child Neurology|December 7, 2011
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibilityGaia Giribaldi, Laura Doria-Lamba, Roberta Biancheri, et al.
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