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Puma, Andrea
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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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

Case Report: Long-Term Tolvaptan Treatment in a Child With ..:

Puma, Andrea ; Brugnara, Milena ; Cavarzere, Paolo...
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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13

Newborn Screening for Fabry Disease: Current Status of Know..:

Gragnaniello, Vincenza ; Burlina, Alessandro P ; Commone, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299185/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Light and Shadows in Newborn Screening for Lysosomal Storag..:

Gragnaniello, Vincenza ; Cazzorla, Chiara ; Gueraldi, Daniela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801488/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Case Report: Long-Term Tolvaptan Treatment in a Child With ..:

Puma, Andrea ; Brugnara, Milena ; Cavarzere, Paolo...
info:eu-repo/semantics/altIdentifier/pmid/34336740.  , 2021
Link: http://hdl.handle.net/11..
 
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