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Santoro, Lucia
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1

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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2

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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3

Cardiac involvement in MPS patients: incidence and response..:

Sestito, Simona ; Rinninella, Giada ; Rampazzo, Angelica...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

A new phenotype of aldolase a deficiency in a 14 year-old b..:

Santoro, Lucia ; Pjetraj, Dorina ; Velmishi, Virtut...
Italian Journal of Pediatrics.  48 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

18‐year follow‐up of enzyme‐replacement therapy in two sibl..:

Pjetraj, Dorina ; Santoro, Lucia ; Sgattoni, Claudia...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 564-569 , 2022
Link: https://doi.org/10.1002/..
 
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6

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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7

Early biochemical effects of velmanase alfa in a 7‐month‐ol..:

Santoro, Lucia ; Zampini, Lucia ; Padella, Lucia...
JIMD Reports.  55 (2020)  1 - p. 15-21 , 2020
Link: https://doi.org/10.1002/..
 
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8

Molecular Genetics of Niemann–Pick Type C Disease in Italy:..:

Dardis, Andrea ; Zampieri, Stefania ; Gellera, Cinzia...
Journal of Clinical Medicine.  9 (2020)  3 - p. 679 , 2020
Link: https://doi.org/10.3390/..
 
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9

Molecular diagnosis of patients affected by mucopolysacchar..:

Zanetti, Alessandra ; D'Avanzo, Francesca ; Rigon, Laura...
European Journal of Pediatrics.  178 (2019)  5 - p. 739-753 , 2019
Link: https://doi.org/10.1007/..
 
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10

The effect of long-term treatment with coenzyme Q10 on nucl..:

Larsen, Emil List ; Padella, Lucia ; Bergholdt, Helle Kirstine Mørup...
Neurobiology of Aging.  67 (2018)  - p. 159-161 , 2018
Link: https://doi.org/10.1016/..
 
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11

False positive screen test for mucopolysaccharidoses in hea..:

Monachesi, Chiara ; Zampini, Lucia ; Padella, Lucia...
Clinica Chimica Acta.  486 (2018)  - p. 221-223 , 2018
Link: https://doi.org/10.1016/..
 
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12

Early diagnosis of mucopolysaccharidoses in developing coun..:

Gabrielli, Orazio ; Zampini, Lucia ; Monachesi, Chiara...
Clinica Chimica Acta.  468 (2017)  - p. 150-151 , 2017
Link: https://doi.org/10.1016/..
 
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13

Importance of the combined urinary procedure for the diagno..:

Zampini, Lucia ; Padella, Lucia ; Marchesiello, Rita Lucia...
Clinica Chimica Acta.  464 (2017)  - p. 165-169 , 2017
Link: https://doi.org/10.1016/..
 
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14

12 year follow up of enzyme-replacement therapy in two sibl..:

Gabrielli, Orazio ; Clarke, Lorne A. ; Ficcadenti, Anna...
BMC Medical Genetics.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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15

Long term follow-up to evaluate the efficacy of miglustat t..:

Fecarotta, Simona ; Romano, Alfonso ; Della Casa, Roberto...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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