E-LIB Suche - Ergebnisse für: Sacchini, Michele

1

Early neurological signs in infants identified through neon..:

Pane, Marika ; Stanca, Giulia ; Ticci, Chiara...
European Journal of Pediatrics. 183 (2024) 7 - p. 2995-2999 , 2024

Link: https://doi.org/10.1007/..

2

Safety outcomes and patients' preferences for home-based in..:

Toscano, Antonio ; Musumeci, Olimpia ; Sacchini, Michele...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

3

Avalglucosidase alfa in patients with infantile-onset Pompe..:

Sapuppo, Annamaria ; Gasperini, Serena ; Sacchini, Michele...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107303 , 2023

Link: https://doi.org/10.1016/..

4

Safety outcomes and patients' preferences for home-based in..:

Toscano, Antonio ; Musumeci, Olimpia ; Sacchini, Michele...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Neurological assessment of newborns with spinal muscular at..:

Pane, Marika ; Donati, Maria Alice ; Cutrona, Costanza...
European Journal of Pediatrics. 181 (2022) 7 - p. 2821-2829 , 2022

Link: https://doi.org/10.1007/..

6

Neurological assessment of newborns with spinal muscular at..:

Pane, Marika ; Donati, Maria Alice ; Cutrona, Costanza...
European Journal of Pediatrics. 181 (2022) 7 - p. 2821-2829 , 2022

Link: https://doi.org/10.1007/..

7

Assessing the Role of Anti rh-GAA in Modulating Response to..:

Filosto, Massimiliano ; Cotti Piccinelli, Stefano ; Ravaglia, Sabrina...
Advances in Therapy. 36 (2019) 5 - p. 1177-1189 , 2019

Link: https://doi.org/10.1007/..

8

Long term clinical history of an Italian cohort of infantil..:

Parini, Rossella ; De Lorenzo, Paola ; Dardis, Andrea...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

Long term clinical history of an Italian cohort of infantil..:

Parini, Rossella ; De Lorenzo, Paola ; Dardis, Andrea...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

10

Favorable course of previously undiagnosed Methylmalonic Ac..:

De Simone, Luciano ; Capirchio, Laura ; Roperto, Rosa Maria...
Italian Journal of Pediatrics. 44 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

11

Infantile-Onset Pompe Disease: The Care Beyond the Cure:

Astrea, Guja ; Perazza, Silvia ; Frosini, Silvia...
Journal of Neuromuscular Diseases. 2 (2015) s1 - p. S58-S59 , 2015

Link: https://doi.org/10.3233/..

12

Additive effect of nuclear and mitochondrial mutations in a..:

Nesti, Claudia ; Meschini, Maria Chiara ; Meunier, Brigitte...
Human Molecular Genetics. 24 (2015) 11 - p. 3248-3256 , 2015

Link: https://doi.org/10.1093/..

13

Infantile-Onset Pompe Disease: The Care Beyond the Cure:

Astrea, Guja ; Perazza, Silvia ; Frosini, Silvia...
Journal of Neuromuscular Diseases. 2 (2015) s1 - p. S58-S59 , 2015

Link: https://doi.org/10.3233/..

14

Correction: Long Term Natural History Data in Ambulant Boys..:

Pane, Marika ; Mazzone, Elena Stacy ; Sivo, Serena...
PLOS ONE. 10 (2015) 12 - p. e0144079 , 2015

Link: https://doi.org/10.1371/..

15

6 Minute Walk Test in Duchenne MD Patients with Different M..:

Pane, Marika ; Mazzone, Elena S. ; Sormani, Maria Pia...
PLoS ONE. 9 (2014) 1 - p. e83400 , 2014

Link: https://doi.org/10.1371/..