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Pediatric Nephrology (Berlin, Germany)|February 6, 2007
Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysisEnrico Verrina, Ubaldo Caruso, Maria Grazia Calevo, et al.Epilepsia|June 8, 2007
Severe epilepsy in X-linked creatine transporter defect (CRTR-D)Maria Margherita Mancardi, Ubaldo Caruso, Maria Cristina Schiaffino, et al.International Journal of Environmental Research and Public Health|May 8, 2020
The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?Marco Salvatore, Annalisa Amato, Giovanna Floridia, et al.Clinical Biochemistry|February 7, 2016
The Italian pilot external quality assessment program for cystic fibrosis sweat testMarco Salvatore, Giovanna Floridia, Annalisa Amato, et al.American Journal of Medical Genetics. Part A|June 7, 2008
Peroxisomal acyl-CoA-oxidase deficiency: two new casesRosalba Carrozzo, Carlo Bellini, Simona Lucioli, et al.Molecular Genetics and Metabolism|January 1, 2008
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCélia Nogueira, Chiara Aiello, Roberto Cerone, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Robert Currier, David M S McHugh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative projectDavid M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.Pageof 2