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Dardis, Andrea
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1

Efficacy of miglustat treatment in a patient withassociated..:

Sechi, Annalisa ; Colucci, Fabiana ; Dardis, Andrea...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108036 , 2024
Link: https://doi.org/10.1016/..
 
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2

MPS II models for the study of joint and bone pathophysiolo..:

Vaena, Emilio ; Ormazabal, Maximiliano E. ; Ceci, Romina...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108060 , 2024
Link: https://doi.org/10.1016/..
 
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3

Deficiency of Glucocerebrosidase Activity beyond Gaucher Di..:

Pavan, Eleonora ; Peruzzo, Paolo ; Cattarossi, Silvia...
International Journal of Molecular Sciences.  25 (2024)  12 - p. 6615 , 2024
Link: https://doi.org/10.3390/..
 
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4

Consensus clinical management guidelines for acid sphingomy..:

Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Understanding the phenotypic variability in Niemann-Pick di..:

Las Heras, Macarena ; Szenfeld, Benjamín ; Ballout, Rami A....
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

Mucopolysaccharidoses Differential Diagnosis by Mass Spectr..:

D'Avanzo, Francesca ; Zanetti, Alessandra ; Dardis, Andrea...
Biomolecules.  13 (2023)  3 - p. 532 , 2023
Link: https://doi.org/10.3390/..
 
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7

Distribution of Exonic Variants in Glycogen Synthesis and C..:

De Filippi, Paola ; Errichiello, Edoardo ; Toscano, Antonio...
Current Issues in Molecular Biology.  45 (2023)  4 - p. 2847-2860 , 2023
Link: https://doi.org/10.3390/..
 
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8

Generation of anmodel for Hunter syndrome using CRISPR/Cas9..:

Vaena, Emilio ; Ormazabal, Maximiliano E. ; Pavan, Eleonora...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107339 , 2023
Link: https://doi.org/10.1016/..
 
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9

First experience of combined enzyme replacement therapy and..:

Santoro, Lucia ; Monachesi, Chiara ; Zampini, Lucia...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1948-1952 , 2023
Link: https://doi.org/10.1002/..
 
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10

Relief of nocturnal neuropathic pain with the use of cannab..:

Bon, Martina ; Dardis, Andrea ; Scarpa, Maurizio.
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101010 , 2023
Link: https://doi.org/10.1016/..
 
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11

Clinical disease characteristics of patients with Niemann-P..:

Bolton, Shaun C. ; Soran, Vina ; Marfa, Mercedes Pineda...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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12

Structure-function relationships of cholesterol mobilizatio..:

Samaddar, Shayak ; Bose, Debosreeta ; Loren, Bradley P....
PLOS ONE.  17 (2022)  12 - p. e0268613 , 2022
Link: https://doi.org/10.1371/..
 
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13

Expression of the tumor-expressed protein MageB2 enhances r..:

Ladelfa, María Fátima ; Peche, Leticia Yamila ; Amato, Gastón Ezequiel...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research.  1868 (2021)  7 - p. 119015 , 2021
Link: https://doi.org/10.1016/..
 
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14

Plasma Neurofilament Light (NfL) in Patients Affected by Ni..:

Dardis, Andrea ; Pavan, Eleonora ; Fabris, Martina...
Journal of Clinical Medicine.  10 (2021)  20 - p. 4796 , 2021
Link: https://doi.org/10.3390/..
 
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15

Focal hepatic lesions in acid sphingomyelinase deficiency: ..:

Sechi, Annalisa ; Vit, Alessandro ; Avellini, Claudio...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100808 , 2021
Link: https://doi.org/10.1016/..
 
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