Showing results (1-10 of 474) with videos related to
Sort By:
Pageof 48
Italian Journal of Pediatrics|November 17, 2018
Newborn screening in mucopolysaccharidosesMaria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.Italian Journal of Pediatrics|June 13, 2019
Correction to: Newborn screening in mucopolysaccharidosesMaria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.Orphanet Journal of Rare Diseases|July 21, 2023
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiencyMaja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, 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Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?Ivana Pela, Daniela Seracini, Maria Alice Donati, et al.Clinical Chemistry|May 19, 2007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.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.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 Reports|August 5, 2016
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduriaAlberto Burlina, Chiara Cazzorla, Elisa Zanonato, et al.Rapid Communications in Mass Spectrometry : RCM|February 19, 2008
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programsGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.Pageof 48