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Scalia, Simone
44  results:
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1

Pompe disease: pathogenesis, molecular genetics and diagnos..:

Taverna, Simona ; Cammarata, Giuseppe ; Colomba, Paolo...
Aging.  12 (2020)  15 - p. 15856-15874 , 2020
Link: https://doi.org/10.18632..
 
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2

Identification of new α-galactosidase A mutation responsibl..:

Battaglia, Yuri ; Scalia, Simone ; Rinaldi, Rosa...
Clinical Nephrology.  91 (2019)  2 - p. 126-128 , 2019
Link: https://doi.org/10.5414/..
 
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3

A pilot study of circulating microRNAs as potential biomark..:

Cammarata, Giuseppe ; Scalia, Simone ; Colomba, Paolo...
Oncotarget.  9 (2018)  44 - p. 27333-27345 , 2018
Link: https://doi.org/10.18632..
 
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4

Systematic DNA Study for Fabry Disease in the End Stage Ren..:

Zizzo, Carmela ; Testa, Alessandra ; Colomba, Paolo...
Kidney and Blood Pressure Research.  43 (2018)  4 - p. 1344-1351 , 2018
Link: https://doi.org/10.1159/..
 
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5

Mutations in the GLA Gene and LysoGb3: Is It Really Anderso..:

Duro, Giovanni ; Zizzo, Carmela ; Cammarata, Giuseppe...
International Journal of Molecular Sciences.  19 (2018)  12 - p. 3726 , 2018
Link: https://doi.org/10.3390/..
 
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6

Fabry disease and multiple sclerosis misdiagnosis: the role..:

Colomba, Paolo ; Zizzo, Carmela ; Alessandro, Riccardo...
Oncotarget.  9 (2018)  8 - p. 7758-7762 , 2018
Link: https://doi.org/10.18632..
 
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7

Functional and Clinical Consequences of Novel α-Galactosida..:

Lukas, Jan ; Scalia, Simone ; Eichler, Sabrina...
Human Mutation.  37 (2016)  7 - p. 710-710 , 2016
Link: https://doi.org/10.1002/..
 
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8

Fabry Disease, a Complex Pathology Not Easy to Diagnose:

Colomba, Paolo ; Scalia, Simone ; Cammarata, Giuseppe...
Cardiogenetics.  5 (2015)  1 - p. 5612 , 2015
Link: https://doi.org/10.4081/..
 
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9

Functional and Clinical Consequences of Novel α-Galactosida..:

Lukas, Jan ; Scalia, Simone ; Eichler, Sabrina...
Human Mutation.  37 (2015)  1 - p. 43-51 , 2015
Link: https://doi.org/10.1002/..
 
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10

FP907HISTORY OF ANDERSON - FABRY DISEASE:

Bartolotta, Caterina ; Filogamo, Marcello ; Colomba, Paolo...
Nephrology Dialysis Transplantation.  30 (2015)  suppl_3 - p. iii379-iii379 , 2015
Link: https://doi.org/10.1093/..
 
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11

De novo mutation in a male patient with Fabry disease: a ca..:

Iemolo, Francesco ; Pizzo, Federica ; Albeggiani, Giuseppe...
BMC Research Notes.  7 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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12

Macular Hole Surgery:

Scalia, Sergio ; Simcock, Peter Reginald ; Scalia, Simone..
ISBN:978-1-83768-062-7.  , 2023
Link: https://mts.intechopen.c..
 
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13

Mutations in the GLA Gene and LysoGb3: Is It Really Anderso..:

Duro, Giovanni ; Zizzo, Carmela ; Cammarata, Giuseppe...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320967/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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14

A pilot study of circulating microRNAs as potential biomark..:

Cammarata, Giuseppe ; Scalia, Simone ; Colomba, Paolo...
info:eu-repo/semantics/altIdentifier/pmid/29937989.  , 2018
Link: http://hdl.handle.net/10..
 
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15

Cognitive impairment and Fabry Disease: a case report with ..:

Razza, Grazia ; Spadaro, Daniela ; Giordano, Antonello...
http://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_20_Razza.pdf.  , 2016
Link: https://doi.org/10.7358/..
 
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