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Clinica Chimica Acta; International Journal of Clinical Chemistry|May 19, 2016
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometryMichela Semeraro, Cristiano Rizzo, Sara Boenzi, 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.
Journal of Inherited Metabolic Disease|May 31, 2012
Creatine metabolism in urea cycle defectsSara Boenzi, Anna Pastore, Diego Martinelli, 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.
Neurology. Genetics|June 3, 2026
<i>HSD17B4</i>-Related Disorder: Defining the Phenotype in Adult-Onset PatientsGrazia Maria Igea Falcone, Alessandra Tessa, Cristiano Rizzo, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|January 17, 2015
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral NutritionGuglielmo Salvatori, Vito Mondì, Fiammetta Piersigilli, et al.
Journal of Pharmaceutical and Biomedical Analysis|July 12, 2011
Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS)Sara Boenzi, Cristiano Rizzo, Vincenzo Maria Di Ciommo, et al.
Journal of Neurology|October 17, 2002
Ethylmalonic encephalopathy: further clinical and neuroradiological characterizationSalvatore Grosso, Rosa Mostardini, Maria Angela Farnetani, et al.
Orphanet Journal of Rare Diseases|January 10, 2021
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disordersMichela Semeraro, Elisa Sacchetti, Federica Deodato, et al.
The Journal of Steroid Biochemistry and Molecular Biology|May 20, 2021
Vitamin D status in Hashimoto's thyroiditis and its association with vitamin D receptor genetic variantsHany William Z Hanna, Cristiano Rizzo, Radwa Marawan Abdel Halim, et al.
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