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Alice Donati

Showing results (21-30 of 117) with videos related to

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Journal of Mass Spectrometry : JMS|January 20, 2006
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screeningSabrina Malvagia, Giancarlo La Marca, Bruno Casetta, 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|April 28, 2004
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptorSabrina Malvagia, Amelia Morrone, Anna Caciotti, et al.
The American Journal of Pathology|November 30, 2005
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patientsAnna Caciotti, Maria Alice Donati, Tiziana Bardelli, 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.
Orphanet Journal of Rare Diseases|August 2, 2020
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disordersAlice Brambilla, Iacopo Olivotto, Silvia Favilli, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Italian Journal of Pediatrics|August 15, 2018
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case reportLuciano De Simone, Laura Capirchio, Rosa Maria Roperto, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
SARS-CoV-2 infection in a patient with propionic acidemiaAnna Caciotti, Elena Procopio, Francesca Pochiero, et al.
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
Pageof 12

Showing results (21-30 of 117) with videos related to

Sort By:
Pageof 12
Journal of Mass Spectrometry : JMS|January 20, 2006
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screeningSabrina Malvagia, Giancarlo La Marca, Bruno Casetta, 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|April 28, 2004
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptorSabrina Malvagia, Amelia Morrone, Anna Caciotti, et al.
The American Journal of Pathology|November 30, 2005
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patientsAnna Caciotti, Maria Alice Donati, Tiziana Bardelli, 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.
Orphanet Journal of Rare Diseases|August 2, 2020
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disordersAlice Brambilla, Iacopo Olivotto, Silvia Favilli, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Italian Journal of Pediatrics|August 15, 2018
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case reportLuciano De Simone, Laura Capirchio, Rosa Maria Roperto, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
SARS-CoV-2 infection in a patient with propionic acidemiaAnna Caciotti, Elena Procopio, Francesca Pochiero, et al.
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
Pageof 12