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Gragnaniello, Vincenza
55
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Online (55)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (31)
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1
Non-compaction myocardium in an early-treated infantile-ons..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Puma, Andrea
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107857 , 2024
Link:
https://doi.org/10.1016/..
?
2
Normal cognitive outcome of transplanted mucopolysaccharido..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Puma, Andrea
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107858 , 2024
Link:
https://doi.org/10.1016/..
?
3
Non‐Hodgkin lymphoma in a kidney transplanted patient with ..:
Burlina, Alberto B.
;
Burlina, Alessandro P.
;
Mignani, Renzo
...
JIMD Reports. 65 (2024) 2 - p. 56-62 , 2024
Link:
https://doi.org/10.1002/..
?
4
Unexpected high frequency of Krabbe disease detected by new..:
Burlina, Alberto
;
Gueraldi, Daniela
;
Puma, Andrea
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107778 , 2024
Link:
https://doi.org/10.1016/..
?
5
Family screening after newborn screening: The "domino effec..:
Burlina, Alessandro
;
Gragnaniello, Vincenza
;
Gueraldi, Daniela
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107779 , 2024
Link:
https://doi.org/10.1016/..
?
6
Newborn screening for Gaucher disease in Italy: Birth preva..:
Burlina, Alberto
;
Gragnaniello, Vincenza
;
Gueraldi, Daniela
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107039 , 2023
Link:
https://doi.org/10.1016/..
?
7
Effectiveness of corticosteroid treatment in a case of peri..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Cazzorla, Chiara
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107126 , 2023
Link:
https://doi.org/10.1016/..
?
8
Long‐term follow‐up of a patient with neonatal form of Gauc..:
Gragnaniello, Vincenza
;
Cazzorla, Chiara
;
Gueraldi, Daniela
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1917-1922 , 2023
Link:
https://doi.org/10.1002/..
?
9
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Com..:
Gragnaniello, Vincenza
;
Rizzardi, Caterina
;
Commone, Anna
...
Journal of Clinical Medicine. 12 (2023) 6 - p. 2365 , 2023
Link:
https://doi.org/10.3390/..
?
10
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/..
?
11
Abnormal activation of MAPKs pathways and inhibition of aut..:
Gragnaniello, Vincenza
;
Gueraldi, Daniela
;
Puma, Andrea
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
12
Understanding the Pathogenesis of Cardiac Complications in ..:
Maines, Evelina
;
Moretti, Michele
;
Vitturi, Nicola
...
Metabolites. 13 (2023) 4 - p. 563 , 2023
Link:
https://doi.org/10.3390/..
?
13
Newborn Screening for Fabry Disease: Current Status of Know..:
Gragnaniello, Vincenza
;
Burlina, Alessandro P.
;
Commone, Anna
...
International Journal of Neonatal Screening. 9 (2023) 2 - p. 31 , 2023
Link:
https://doi.org/10.3390/..
?
14
Light and Shadows in Newborn Screening for Lysosomal Storag..:
Gragnaniello, Vincenza
;
Cazzorla, Chiara
;
Gueraldi, Daniela
...
International Journal of Neonatal Screening. 10 (2023) 1 - p. 3 , 2023
Link:
https://doi.org/10.3390/..
?
15
Bone disease in early detected Gaucher Type I disease: A ca..:
Gragnaniello, Vincenza
;
Burlina, Alessandro P.
;
Manara, Renzo
...
JIMD Reports. 63 (2022) 5 - p. 414-419 , 2022
Link:
https://doi.org/10.1002/..
1-15