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Annamaria Sapuppo
29  results:
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1

Avalglucosidase alfa in infantile-onset Pompe disease: A sn..:

Fiumara, Agata ; Sapuppo, Annamaria ; Gasperini, Serena...
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101126 , 2024
Link: https://doi.org/10.1016/..
 
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2

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Im..:

Giacomarra, Miriam ; Colomba, Paolo ; Francofonte, Daniele...
Journal of Clinical Medicine.  13 (2024)  5 - p. 1487 , 2024
Link: https://doi.org/10.3390/..
 
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3

Reducing agalsidase beta infusion time in Fabry patients: l..:

Mignani, Renzo ; Americo, Claudio ; Aucella, Filippo...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Obesity as a Confounding Factor in the Diagnosis of Wilson'..:

Bracciamà, Emanuele ; Sapuppo, Annamaria ; Rapisarda, Laura...
Current Issues in Molecular Biology.  46 (2024)  6 - p. 6112-6120 , 2024
Link: https://doi.org/10.3390/..
 
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5

Higher frequency of TMEM199-CDG in the southern mediterrane..:

Fiumara, Agata ; Sapuppo, Annamaria ; Ferri, Lorenzo...
European Journal of Medical Genetics.  66 (2023)  3 - p. 104709 , 2023
Link: https://doi.org/10.1016/..
 
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6

Balance impairment in cerebrotendinous xanthomatosis: Ankle..:

Cioni, Matteo ; Casabona, Antonino ; Sapuppo, Annamaria...
Clinical Biomechanics.  102 (2023)  - p. 105896 , 2023
Link: https://doi.org/10.1016/..
 
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7

Positive Impact of Home ERT for Mucopolysaccharidoses and P..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Sapuppo, Annamaria...
Healthcare.  11 (2023)  8 - p. 1176 , 2023
Link: https://doi.org/10.3390/..
 
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8

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/..
 
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9

Dihydropyridine Reductase Deficiency: Acute Encephalopathy ..:

Pappalardo, Maria Grazia ; Di Nora, Alessandra ; Giugno, Andrea...
Global Medical Genetics.  9 (2022)  3 - p. 247-251 , 2022
Link: https://doi.org/10.1055/..
 
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10

Genotype-phenotype variable correlation in Wilson disease: ..:

Sapuppo, Annamaria ; Pavone, Piero ; Praticò, Andrea Domenico...
BMC Medical Genetics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

COVID-19 Pandemic Outbreak and its Psychological Impact on ..:

Fiumara, Agata ; Lanzafame, Giuseppina ; Arena, Alessia...
Journal of Clinical Medicine.  9 (2020)  9 - p. 2716 , 2020
Link: https://doi.org/10.3390/..
 
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12

Deciphering the Invdupdel(8p) Genotype–Phenotype Correlatio..:

Lo Bianco, Manuela ; Vecchio, Davide ; Timpanaro, Tiziana A....
Brain Sciences.  10 (2020)  7 - p. 451 , 2020
Link: https://doi.org/10.3390/..
 
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13

PANS/PANDAS: Clinical Experience in IVIG Treatment and Stat..:

Pavone, Piero ; Falsaperla, Raffaele ; Cacciaguerra, Giovanni...
NeuroSci.  1 (2020)  2 - p. 75-84 , 2020
Link: https://doi.org/10.3390/..
 
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14

Additional file 1 of Reducing agalsidase beta infusion time..:

Renzo Mignani ; Claudio Americo ; Filippo Aucella...
doi:10.6084/m9.figshare.25137958.v1.  , 2024
Link: https://doi.org/10.6084/..
 
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15

Additional file 1 of Reducing agalsidase beta infusion time..:

Renzo Mignani ; Claudio Americo ; Filippo Aucella...
doi:10.6084/m9.figshare.25137958.v1.  , 2024
Link: https://doi.org/10.6084/..
 
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