Showing results (1-10 of 33) with videos related to
Sort By:
Pageof 4
Italian Journal of Pediatrics|June 13, 2019
Correction to: Newborn screening in mucopolysaccharidosesMaria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.Italian Journal of Pediatrics|November 17, 2018
Newborn screening in mucopolysaccharidosesMaria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 11, 2012
Genetic polymorphisms of antioxidant enzymes in preterm infantsChiara Poggi, Betti Giusti, Anna Vestri, et al.Pediatric Nephrology (Berlin, Germany)|September 28, 2007
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?Ivana Pela, Daniela Seracini, Maria Alice Donati, et al.Free Radical Research|May 12, 2012
Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infantsBetti Giusti, Anna Vestrini, Chiara Poggi, et al.Clinical Chemistry|May 19, 2007
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometryGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.Journal of Mass Spectrometry : JMS|October 25, 2006
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samplesGiancarlo la Marca, Bruno Casetta, Sabrina Malvagia, et al.Molecular Genetics and Metabolism|July 1, 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiencyClaudia Carducci, Silvia Santagata, Jennifer Friedman, et al.Prenatal Diagnosis|October 19, 2005
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiencySabrina Malvagia, Amelia Morrone, Elisabetta Pasquini, et al.Pediatric Research|August 9, 2003
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patientSabrina Malvagia, Giovanni Maria Poggi, Elisabetta Pasquini, et al.Pageof 4