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 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

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 · 245 citations

Nutrition, Inborn Errors, National Retrospective Survey +11

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

Early Diagnosis, Newborn Screening, Neonatology +8

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 · 109 citations

Cblc Type, Mendelian Disorder, Genetic Disorder +8

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 · 90 citations · Full text

Molecular Diagnostic Techniques, Periodic Fever Syndrome, Autoimmune Disease +10