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Scarpa, Maurizio
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1

Monitoring and integrated care coordination of patients wit..:

Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Early clinical response and continued safety with vestronid..:

Burton, Barbara ; Giugliani, Roberto ; Gonzalez-Meneses, Antonio...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108212 , 2024
Link: https://doi.org/10.1016/..
 
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3

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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4

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107850 , 2024
Link: https://doi.org/10.1016/..
 
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5

Long-term safety outcomes of eliglustat in patients with Ga..:

Giraldo, Pilar ; Batsu, Isabela ; Accomando, Beverly...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107844 , 2024
Link: https://doi.org/10.1016/..
 
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6

Diagnosis of alpha-Mannosidosis: Practical approaches to re..:

Santoro, Lucia ; Cefalo, Graziella ; Canalini, Fabrizio..
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108444 , 2024
Link: https://doi.org/10.1016/..
 
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7

A natural history study of late-infantile and juvenile GM1 ..:

Giugliani, Roberto ; Harmatz, Paul ; Héron, Bénédicte...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107849 , 2024
Link: https://doi.org/10.1016/..
 
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8

Assessment of health state utilities associated with adult ..:

Matza, Louis S. ; Stewart, Katie D. ; Fournier, Marie...
The European Journal of Health Economics.  , 2024
Link: https://doi.org/10.1007/..
 
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9

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107927 , 2024
Link: https://doi.org/10.1016/..
 
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10

Natural history of acid sphingomyelinase deficiency among E..:

Mengel, Eugen ; Scarpa, Maurizio ; Guffon, Nathalie...
European Journal of Medical Genetics.  70 (2024)  - p. 104954 , 2024
Link: https://doi.org/10.1016/..
 
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11

Vestronidase alfa for the treatment of mucopolysaccharidosi..:

Giugliani, Roberto ; Grant, Christina L. ; Scarpa, Maurizio...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107851 , 2024
Link: https://doi.org/10.1016/..
 
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12

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107974 , 2024
Link: https://doi.org/10.1016/..
 
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13

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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14

Performance measures and patient/caregiver-reported assessm..:

Malkus, Betsy C. ; Cohen, Jeanne M. ; Grant, Christina L....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107949 , 2024
Link: https://doi.org/10.1016/..
 
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15

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open.  2 (2024)  - p. 101385 , 2024
Link: https://doi.org/10.1016/..
 
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