PASQUINI, ELISABETTA
PASQUINI, ELISABETTA
A genetic modifier of symptom onset in Pompe disease
2019 Bergsma, Atze J.; in 't Groen, Stijn L.M.; van den Dorpel, Jan J.A.; van den Hout, Hannerieke J.M.P.; van der Beek, Nadine A.M.E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W.W.M. Pim
Clinical profile and outcome of cardiac involvement in MELAS syndrome
2019 Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
2017 Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D.; Koå¾ich, Viktor; Blom, Henk; Baumgartner, Matthias R.; Dionisi-Vici, Carlo
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature
2018 Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; La Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia
Newborn screening for homocystinurias: recent recommendations versus current practice
2019 Keller, R.; Chrastina, P.; Pavlíková, M.; Gouveia, S.; Ribes, A.; Kölker, S.; Blom, H.J.; Baumgartner, M.R.; Bártl, J.; Dionisi Vici, C.; Gleich, F.; Morris, A.A.; Kožich, V.; Huemer, M.; Barić, I.; Ben-Omran, T.; Blasco-Alonso, J.; Bueno Delgado, M.A.; Carducci, C.; Cassanello, M.; Cerone, R.; Couce, M.L.; Crushell, E.; Delgado Pecellin, C.; Dulin, E.; Espada, M.; Ferino, G.; Fingerhut, R.; Garcia Jimenez, I.; Gonzalez Gallego, I.; González-Irazabal, Y.; Gramer, G.; Juan Fita, M.J.; Karg, E.; Klein, J.; Konstantopoulou, V.; la Marca, G.; Leão Teles, E.; Leuzzi, V.; Lilliu, F.; Lopez, R.M.; Lund, A.M.; Mayne, P.; Meavilla, S.; Moat, S.J.; Okun, J.G.; Pasquini, E.; Pedron-Giner, C.; Racz, G.Z.; Ruiz Gomez, M.A.; Vilarinho, L.; Yahyaoui, R.; Zerjav Tansek, M.; Zetterström, R.H.; Zeyda, M.
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients
2017 Bacci, Gm; Donati, Ma; Pasquini, E; Munier, F; Cavicchi, C; Morrone, A; Sodi, A; Murro, V; Garcia Segarra, N; Defilippi, C; Bussolin, L; Caputo, R.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A genetic modifier of symptom onset in Pompe disease | 2019 | Bergsma, Atze J.; in 't Groen, Stijn L.M.; van den Dorpel, Jan J.A.; van den Hout, Hannerieke J.M.P.; van der Beek, Nadine A.M.E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W.W.M. Pim | |
| Clinical profile and outcome of cardiac involvement in MELAS syndrome | 2019 | Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A. | |
| Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency | 2017 | Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D.; Koå¾ich, Viktor; Blom, Henk; Baumgartner, Matthias R.; Dionisi-Vici, Carlo | |
| Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature | 2018 | Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; La Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia | |
| Newborn screening for homocystinurias: recent recommendations versus current practice | 2019 | Keller, R.; Chrastina, P.; Pavlíková, M.; Gouveia, S.; Ribes, A.; Kölker, S.; Blom, H.J.; Baumgartner, M.R.; Bártl, J.; Dionisi Vici, C.; Gleich, F.; Morris, A.A.; Kožich, V.; Huemer, M.; Barić, I.; Ben-Omran, T.; Blasco-Alonso, J.; Bueno Delgado, M.A.; Carducci, C.; Cassanello, M.; Cerone, R.; Couce, M.L.; Crushell, E.; Delgado Pecellin, C.; Dulin, E.; Espada, M.; Ferino, G.; Fingerhut, R.; Garcia Jimenez, I.; Gonzalez Gallego, I.; González-Irazabal, Y.; Gramer, G.; Juan Fita, M.J.; Karg, E.; Klein, J.; Konstantopoulou, V.; la Marca, G.; Leão Teles, E.; Leuzzi, V.; Lilliu, F.; Lopez, R.M.; Lund, A.M.; Mayne, P.; Meavilla, S.; Moat, S.J.; Okun, J.G.; Pasquini, E.; Pedron-Giner, C.; Racz, G.Z.; Ruiz Gomez, M.A.; Vilarinho, L.; Yahyaoui, R.; Zerjav Tansek, M.; Zetterström, R.H.; Zeyda, M. | |
| Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients | 2017 | Bacci, Gm; Donati, Ma; Pasquini, E; Munier, F; Cavicchi, C; Morrone, A; Sodi, A; Murro, V; Garcia Segarra, N; Defilippi, C; Bussolin, L; Caputo, R. |