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Maria Alice Donati

Showing results (11-20 of 82) with videos related to

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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|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.
Pageof 9

Showing results (11-20 of 82) with videos related to

Sort By:
Pageof 9
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|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.
Pageof 9