Ubaldo Caruso

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

Carlo Dionisi‐Vici, Cristiano Rizzo, Alberto Burlina et al. · The Journal of Pediatrics · 2002 · 247 citations

Life Sciences, Child Health, Pediatrics +7

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Medicine, Child Health, Pediatrics +14

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Célia Nogueira, Chiara Aiello, R. Cerone et al. · Molecular Genetics and Metabolism · 2008 · 111 citations

Life Sciences, Genetics, Molecular Genetics +12

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Janet Koster, Gerrit-Jan Romeijn et al. · European Journal of Human Genetics · 2001 · 91 citations

Life Sciences, Genetics, Molecular Genetics +7