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Elisabetta Pasquini

Showing results (1-10 of 33) with videos related to

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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Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?Ivana Pela, Daniela Seracini, Maria Alice Donati, et al.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

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