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Parenti, Giancarlo
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1

Endocrine involvement in hepatic glycogen storage diseases:..:

Rossi, Alessandro ; Simeoli, Chiara ; Pivonello, Rosario...
Reviews in Endocrine and Metabolic Disorders.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Metabolic stroke-like events in a girl with pyruvate dehydr..:

Fecarotta, Simona ; D'Amico, Alessandra ; Di Gennaro, Simona...
Neurological Sciences.  45 (2024)  6 - p. 2913-2914 , 2024
Link: https://doi.org/10.1007/..
 
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3

Start, switch and stop (triple‐S) criteria for enzyme repla..:

Schoser, Benedikt ; van der Beek, Nadine A. M. E. ; Broomfield, Alexander...
European Journal of Neurology.  , 2024
Link: https://doi.org/10.1111/..
 
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4

Biomarkers for gene therapy clinical trials of lysosomal st..:

Rossi, Alessandro ; Malvagia, Sabrina ; la Marca, Giancarlo..
Molecular Therapy.  , 2024
Link: https://doi.org/10.1016/..
 
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5

Precision medicine in action for Pompe disease:

Tarallo, Antonietta ; Parenti, Giancarlo ; Brunetti-Pierri, Nicola
Molecular Therapy - Nucleic Acids.  35 (2024)  3 - p. 102265 , 2024
Link: https://doi.org/10.1016/..
 
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6

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA ..:

Terracciano, Rosamaria ; Ruoppolo, Margherita ; Barretta, Ferdinando...
Molecular Genetics and Metabolism Reports.  40 (2024)  - p. 101116 , 2024
Link: https://doi.org/10.1016/..
 
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7

How dietary advanced glycation end products could facilitat..:

Paparo, Lorella ; Coppola, Serena ; Nocerino, Rita...
Journal of Allergy and Clinical Immunology.  153 (2024)  3 - p. 742-758 , 2024
Link: https://doi.org/10.1016/..
 
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8

Loss of the batten disease protein CLN3 leads to mis-traffi..:

Calcagni', Alessia ; Staiano, Leopoldo ; Zampelli, Nicolina...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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9

Contribution of Genetic Test to Early Diagnosis of Methylen..:

Barretta, Ferdinando ; Uomo, Fabiana ; Fecarotta, Simona...
Genes.  14 (2023)  5 - p. 980 , 2023
Link: https://doi.org/10.3390/..
 
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10

Differentially expressed miRNAs may help explaining the pat..:

Giardino, Giuliana ; Toriello, Elisabetta ; Tarallo, Antonietta...
Clinical Immunology.  250 (2023)  - p. 109480 , 2023
Link: https://doi.org/10.1016/..
 
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11

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics.  31 (2023)  6 - p. 648-653 , 2023
Link: https://doi.org/10.1038/..
 
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12

Postbiotic Preparation of Lacticaseibacillus rhamnosus GG a..:

Poeta, Marco ; Cioffi, Valentina ; Tarallo, Antonietta...
Antioxidants.  12 (2023)  10 - p. 1878 , 2023
Link: https://doi.org/10.3390/..
 
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13

RagD auto-activating mutations impair MiT/TFE activity in k..:

Sambri, Irene ; Ferniani, Marco ; Campostrini, Giulia...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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14

Mitochondrial reprogramming in peripheral blood mononuclear..:

Rossi, Alessandro ; Assunto, Antonia ; Rosano, Carmen...
Genes & Nutrition.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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15

Immune responses to alglucosidase in infantile Pompe diseas..:

Gragnaniello, Vincenza ; Deodato, Federica ; Gasperini, Serena...
Italian Journal of Pediatrics.  48 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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