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Amelia Morrone

Showing results (21-30 of 116) 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.
Molecules (Basel, Switzerland)|October 7, 2020
Synthesis of "<i>All-Cis"</i> Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase InhibitorsMaria Giulia Davighi, Francesca Clemente, Camilla Matassini, et al.
European Journal of Case Reports in Internal Medicine|February 14, 2019
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown OriginFrancesca Graziani, Aureliano Ruggio, Antonio Iaconelli, et al.
Chembiochem : a European Journal of Chemical Biology|September 17, 2015
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher DiseaseCamilla Parmeggiani, Serena Catarzi, Camilla Matassini, 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.
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.
Chembiochem : a European Journal of Chemical Biology|October 25, 2023
pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 GeneMaria Giulia Davighi, Camilla Matassini, Francesca Clemente, 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.
Pediatric Emergency Care|May 4, 2013
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiencyAlbina Tummolo, Vito Favia, Rosa Bellantuono, et al.
Pageof 12

Showing results (21-30 of 116) with videos related to

Sort By:
Pageof 12
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.
Molecules (Basel, Switzerland)|October 7, 2020
Synthesis of "<i>All-Cis"</i> Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase InhibitorsMaria Giulia Davighi, Francesca Clemente, Camilla Matassini, et al.
European Journal of Case Reports in Internal Medicine|February 14, 2019
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown OriginFrancesca Graziani, Aureliano Ruggio, Antonio Iaconelli, et al.
Chembiochem : a European Journal of Chemical Biology|September 17, 2015
Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher DiseaseCamilla Parmeggiani, Serena Catarzi, Camilla Matassini, 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.
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.
Chembiochem : a European Journal of Chemical Biology|October 25, 2023
pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 GeneMaria Giulia Davighi, Camilla Matassini, Francesca Clemente, 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.
Pediatric Emergency Care|May 4, 2013
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiencyAlbina Tummolo, Vito Favia, Rosa Bellantuono, et al.
Pageof 12