Enzo Ranieri

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

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 164 citations

The enkephalins are amongst the peptides hydrolyzed by purified acetylcholinesterase

I.W. Chubb, Enzo Ranieri, G H White et al. · Neuroscience · 1983 · 143 citations

Protein Secretion, Biochemistry, Natural Sciences +5

The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia

Tracy Cheffins, Annabelle Chan, Eric Haan et al. · BJOG An International Journal of Obstetrics & Gynaecology · 2000 · 118 citations