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Bordugo, Andrea
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1

Identification of Potential Clusters of Signs and Symptoms ..:

Spagnoli, Carlotta ; Battini, Roberta ; Manti, Filippo...
Behavioural Neurology.  2024 (2024)  - p. 1-7 , 2024
Link: https://doi.org/10.1155/..
 
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2

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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3

A Gain-of-Function Mutation on BCKDK Gene and Its Possible ..:

Maguolo, Alice ; Rodella, Giulia ; Giorgetti, Alejandro...
Genes.  13 (2022)  2 - p. 233 , 2022
Link: https://doi.org/10.3390/..
 
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4

Expanded Newborn Screening in Italy Using Tandem Mass Spect..:

Ruoppolo, Margherita ; Malvagia, Sabrina ; Boenzi, Sara...
International Journal of Neonatal Screening.  8 (2022)  3 - p. 47 , 2022
Link: https://doi.org/10.3390/..
 
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5

Epilepsy and inborn errors of metabolism in adults: The dia..:

Cani, Ilaria ; Pondrelli, Federica ; Licchetta, Laura...
Epilepsia Open.  7 (2022)  4 - p. 810-816 , 2022
Link: https://doi.org/10.1002/..
 
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6

Efficacy and safety of empagliflozin in glycogen storage di..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Adrian, Katarina...
Genetics in Medicine.  24 (2022)  8 - p. 1781-1788 , 2022
Link: https://doi.org/10.1016/..
 
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7

Genotype and residual enzyme activity in medium‐chain acyl‐..:

Tucci, Sara ; Wagner, Christine ; Grünert, Sarah C....
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 916-925 , 2021
Link: https://doi.org/10.1002/..
 
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8

Newborn Screening for Biotinidase Deficiency. The Experienc..:

Maguolo, Alice ; Rodella, Giulia ; Dianin, Alice...
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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9

Assessing Gut Microbiota in an Infant with Congenital Propi..:

Bordugo, Andrea ; Salvetti, Elisa ; Rodella, Giulia...
Microorganisms.  9 (2021)  12 - p. 2599 , 2021
Link: https://doi.org/10.3390/..
 
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10

Dietary lipids in glycogen storage disease type III: A syst..:

Rossi, Alessandro ; Hoogeveen, Irene J. ; Bastek, Vanessa B....
Journal of Inherited Metabolic Disease.  43 (2020)  4 - p. 770-777 , 2020
Link: https://doi.org/10.1002/..
 
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11

Epilepsy and movement disorders in CDG: Report on the oldes..:

Lo Barco, Tommaso ; Osanni, Elisa ; Bordugo, Andrea...
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 219-222 , 2020
Link: https://doi.org/10.1002/..
 
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12

Multiple acyl-COA dehydrogenase deficiency in elderly carri..:

Macchione, Francesco ; Salviati, Leonardo ; Bordugo, Andrea...
Journal of Neurology.  267 (2020)  5 - p. 1414-1419 , 2020
Link: https://doi.org/10.1007/..
 
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13

HILIC-UPLC-MS for high throughput and isomeric N-glycan sep..:

Messina, Angela ; Palmigiano, Angelo ; Esposito, Francesca...
Glycoconjugate Journal.  38 (2020)  2 - p. 201-211 , 2020
Link: https://doi.org/10.1007/..
 
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14

The impact of COVID-19 pandemic on the diagnosis and manage..:

Elmonem, Mohamed A. ; Belanger-Quintana, Amaya ; Bordugo, Andrea...
Molecular Genetics and Metabolism.  131 (2020)  3 - p. 285-288 , 2020
Link: https://doi.org/10.1016/..
 
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15

First paediatric COVID‐19 associated death in Italy:

Mercolini, Federico ; Donà, Daniele ; Girtler, Ylenia...
Journal of Paediatrics and Child Health.  57 (2020)  5 - p. 736-737 , 2020
Link: https://doi.org/10.1111/..
 
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