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Brunetti‐Pierri, Nicola
394  Ergebnisse:
Personensuche X
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1

Liver‐directed gene therapy for inherited metabolic disease:

Baruteau, Julien ; Brunetti‐Pierri, Nicola ; Gissen, Paul
Journal of Inherited Metabolic Disease.  47 (2024)  1 - p. 9-21 , 2024
Link: https://doi.org/10.1002/..
 
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2

Joint contractures is a recurrent clinical feature of indiv..:

Peduto, Cristina ; Cappuccio, Gerarda ; Zeuli, Roberta...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Liver gene transfer for metabolite detoxification in inheri..:

D'Alessio, Alfonso M. ; Boffa, Iolanda ; De Stefano, Lucia..
FEBS Letters.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Gene therapies for mucopolysaccharidoses:

Rossi, Alessandro ; Brunetti‐Pierri, Nicola
Journal of Inherited Metabolic Disease.  47 (2023)  1 - p. 135-144 , 2023
Link: https://doi.org/10.1002/..
 
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5

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics.  104 (2023)  2 - p. 186-197 , 2023
Link: https://doi.org/10.1111/..
 
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6

Liver‐directed gene therapy for ornithine aminotransferase ..:

Boffa, Iolanda ; Polishchuk, Elena ; De Stefano, Lucia...
EMBO Molecular Medicine.  15 (2023)  4 - p. , 2023
Link: https://doi.org/10.15252..
 
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7

Inborn Metabolic Diseases, Jean‐Marie Saudubray, Matthias R..:

Brunetti‐Pierri, Nicola
Journal of Inherited Metabolic Disease.  46 (2023)  3 - p. 536-536 , 2023
Link: https://doi.org/10.1002/..
 
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8

Drug screening identifies tazarotene and bexarotene as ther..:

Schlotawa, Lars ; Tyka, Karolina ; Kettwig, Matthias...
EMBO Molecular Medicine.  15 (2023)  3 - p. , 2023
Link: https://doi.org/10.15252..
 
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9

Late‐onset mucopolysaccharidosis type IIIA mimicking Usher ..:

De Falco, Alessandro ; Karali, Marianthi ; Criscuolo, Chiara...
American Journal of Medical Genetics Part A.  194 (2023)  5 - p. , 2023
Link: https://doi.org/10.1002/..
 
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10

Are SHROOM4 loss‐of‐function variants pathogenic?:

Peduto, Cristina ; Piluso, Giulio ; Nigro, Vincenzo.
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3374-3375 , 2022
Link: https://doi.org/10.1002/..
 
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11

New mouse models with hypomorphic SUMF1 variants mimic atte..:

Sorrentino, Nicolina Cristina ; Presa, Maximiliano ; Attanasio, Sergio...
Journal of Inherited Metabolic Disease.  46 (2022)  2 - p. 335-347 , 2022
Link: https://doi.org/10.1002/..
 
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12

Expanding the phenotype of HNRNPU‐related neurodevelopmenta..:

Taylor, James ; Spiller, Michael ; Ranguin, Kara...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1497-1514 , 2022
Link: https://doi.org/10.1002/..
 
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13

Expanded cardiovascular phenotype of Myhre syndrome include..:

Cappuccio, Gerarda ; Brunetti‐Pierri, Nicola ; Clift, Paul...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1384-1395 , 2022
Link: https://doi.org/10.1002/..
 
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14

Disease burden and management of Crigler‐Najjar syndrome: R..:

Aronson, Sem J. ; Junge, Norman ; Trabelsi, Mediha...
Liver International.  42 (2022)  7 - p. 1593-1604 , 2022
Link: https://doi.org/10.1111/..
 
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15

Peculiar footprints in a child with agenesis of corpus call..:

Cappuccio, Gerarda ; Genesio, Rita ; Pignataro, Piero.
Journal of Paediatrics and Child Health.  , 2022
Link: https://doi.org/10.1111/..
 
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