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Alice Donati

Showing results (11-20 of 117) with videos related to

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Neonatology|November 6, 2009
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduriaLuca Filippi, Elena Gozzini, Patrizio Fiorini, et al.
Neuromolecular Medicine|April 16, 2013
Neuromuscular disorders in zebrafish: state of the art and future perspectivesAndrea Pappalardo, Letizia Pitto, Chiara Fiorillo, et al.
Rapid Communications in Mass Spectrometry : RCM|December 4, 2003
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometryGiancarlo la Marca, Sabrina Malvagia, 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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patientAnna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports|December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screeningSilvia Funghini, Rodolfo Tonin, Sabrina Malvagia, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|January 18, 2021
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reportsClaudia Dosi, Anna Rubegni, Denise Cassandrini, et al.
Rapid Communications in Mass Spectrometry : RCM|February 22, 2005
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometryGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
Pageof 12

Showing results (11-20 of 117) with videos related to

Sort By:
Pageof 12
Neonatology|November 6, 2009
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduriaLuca Filippi, Elena Gozzini, Patrizio Fiorini, et al.
Neuromolecular Medicine|April 16, 2013
Neuromuscular disorders in zebrafish: state of the art and future perspectivesAndrea Pappalardo, Letizia Pitto, Chiara Fiorillo, et al.
Rapid Communications in Mass Spectrometry : RCM|December 4, 2003
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometryGiancarlo la Marca, Sabrina Malvagia, 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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patientAnna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports|December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screeningSilvia Funghini, Rodolfo Tonin, Sabrina Malvagia, 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.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|January 18, 2021
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reportsClaudia Dosi, Anna Rubegni, Denise Cassandrini, et al.
Rapid Communications in Mass Spectrometry : RCM|February 22, 2005
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometryGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
Pageof 12