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Amelia Morrone

Showing results (31-40 of 116) with videos related to

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Case Reports in Pediatrics|August 25, 2017
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic SyndromeGianluigi Ardissino, Michela Perrone, Francesca Tel, et al.
Genetic Testing|June 10, 2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot villageTheodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou, et al.
European Journal of Internal Medicine|April 17, 2016
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysisElena Verrecchia, Anna Zampetti, Daniela Antuzzi, et al.
Biomedicines|August 26, 2022
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type CClaudia Capitini, Federica Feo, Anna Caciotti, 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.
European Journal of Medical Genetics|January 27, 2023
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutationAgata Fiumara, Annamaria Sapuppo, Lorenzo Ferri, et al.
Italian Journal of Pediatrics|October 26, 2012
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotypeCristina Lovera, Francesco Porta, Anna Caciotti, et al.
Molecules (Basel, Switzerland)|July 9, 2022
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 GangliosidosisFrancesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, et al.
Frontiers in Endocrinology|August 7, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axesGiulia Del Medico, Lorenzo Ferri, Elena Procopio, et al.
The Journal of Organic Chemistry|September 1, 2021
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase)Francesca Clemente, Camilla Matassini, Sara Giachetti, et al.
Pageof 12

Showing results (31-40 of 116) with videos related to

Sort By:
Pageof 12
Case Reports in Pediatrics|August 25, 2017
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic SyndromeGianluigi Ardissino, Michela Perrone, Francesca Tel, et al.
Genetic Testing|June 10, 2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot villageTheodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou, et al.
European Journal of Internal Medicine|April 17, 2016
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysisElena Verrecchia, Anna Zampetti, Daniela Antuzzi, et al.
Biomedicines|August 26, 2022
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type CClaudia Capitini, Federica Feo, Anna Caciotti, 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.
European Journal of Medical Genetics|January 27, 2023
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutationAgata Fiumara, Annamaria Sapuppo, Lorenzo Ferri, et al.
Italian Journal of Pediatrics|October 26, 2012
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotypeCristina Lovera, Francesco Porta, Anna Caciotti, et al.
Molecules (Basel, Switzerland)|July 9, 2022
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 GangliosidosisFrancesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, et al.
Frontiers in Endocrinology|August 7, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axesGiulia Del Medico, Lorenzo Ferri, Elena Procopio, et al.
The Journal of Organic Chemistry|September 1, 2021
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase)Francesca Clemente, Camilla Matassini, Sara Giachetti, et al.
Pageof 12