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Francesca Menni

Showing results (31-40 of 44) with videos related to

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Journal of Inherited Metabolic Disease|February 13, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?Sara Tucci, Christine Wagner, Sarah C Grünert, et al.
Journal of Neurology|December 17, 2013
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesisAndrea Citterio, Alessia Arnoldi, Elena Panzeri, et al.
Transplantation Proceedings|August 3, 2023
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case ReportValentina Cattaneo, Alessio Caccioppola, Sebastiano Maria Colombo, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
International Journal of Neonatal Screening|May 23, 2025
Expanded Newborn Screening in Italy: The First Report of Lombardy RegionClarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
International Journal of Neonatal Screening|August 22, 2025
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. <i>Int. J. Neonatal Screen.</i> 2025, <i>11</i>, 31Clarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|February 13, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?Sara Tucci, Christine Wagner, Sarah C Grünert, et al.
Journal of Neurology|December 17, 2013
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesisAndrea Citterio, Alessia Arnoldi, Elena Panzeri, et al.
Transplantation Proceedings|August 3, 2023
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case ReportValentina Cattaneo, Alessio Caccioppola, Sebastiano Maria Colombo, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapyRossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
International Journal of Neonatal Screening|May 23, 2025
Expanded Newborn Screening in Italy: The First Report of Lombardy RegionClarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.
Clinical Epigenetics|July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutationsCatia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
International Journal of Neonatal Screening|August 22, 2025
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. <i>Int. J. Neonatal Screen.</i> 2025, <i>11</i>, 31Clarissa Berardo, Alessandra Vasco, Alessia Mauri, et al.
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