E-LIB Suche - Ergebnisse für: Gasperini, Serena

1

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

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

2

Efficacy and safety of pegzilarginase in arginase 1 deficie..:

Russo, Rossana Sanchez ; Gasperini, Serena ; Bubb, Gillian...
eClinicalMedicine. 68 (2024) - p. 102405 , 2024

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

3

Baby-COMET: Safety of avalglucosidase alfa after repeat dos..:

Hahn, Andreas ; Fu, Lijun ; Gasperini, Serena...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107871 , 2024

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

4

Antibody Deficiency in Patients with Biallelic KARS1 Mutati..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2115-2125 , 2023

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

5

Long-Term Management of Patients with Mild Urea Cycle Disor..:

Burlina, Albero ; Gasperini, Serena ; la Marca, Giancarlo...
Nutrients. 16 (2023) 1 - p. 13 , 2023

Link: https://doi.org/10.3390/..

6

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/..

7

Parents' experience of the communication process of positiv..:

Bani, Marco ; Russo, Selena ; Raggi, Erika...
Child: Care, Health and Development. 49 (2023) 6 - p. 961-971 , 2023

Link: https://doi.org/10.1111/..

8

Treatment Dilemma in Children with Late-Onset Pompe Disease:

Faraguna, Martha Caterina ; Crescitelli, Viola ; Fornari, Anna...
Genes. 14 (2023) 2 - p. 362 , 2023

Link: https://doi.org/10.3390/..

9

Correction to: Antibody Deficiency in Patients with Biallel..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology. 43 (2023) 8 - p. 2126-2126 , 2023

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

10

Extensive and Persistent Dermal Melanocytosis in a Male Car..:

Romagnuolo, Maurizio ; Moltrasio, Chiara ; Gasperini, Serena..
Children. 10 (2023) 12 - p. 1920 , 2023

Link: https://doi.org/10.3390/..

11

Finding balance between mature and immature neutrophils: Th..:

Guerra, Fabiola ; Gasperini, Serena ; Bonanomi, Sonia...
eJHaem. 4 (2023) 2 - p. 551-554 , 2023

Link: https://doi.org/10.1002/..

12

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/..

13

Crohn-like disease long remission in a pediatric patient wi..:

Calia, Margherita ; Arosio, Andrea Mario Luciano ; Crescitelli, Viola...
Therapeutic Advances in Gastroenterology. 16 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

14

Hepatic glycogen storage diseases type 0, VI and IX: descri..:

Tagliaferri, Francesco ; Massese, Miriam ; Russo, Luisa...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

15

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology. 58 (2022) - p. 102517 , 2022

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