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Artuch, Rafael
471  results:
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1

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics.  32 (2024)  4 - p. 426-434 , 2024
Link: https://doi.org/10.1038/..
 
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2

Genome and RNA sequencing were essential to reveal cryptic ..:

Morales-Romero, Blai ; Muñoz-Pujol, Gerard ; Artuch, Rafael...
Molecular Genetics and Metabolism.  142 (2024)  3 - p. 108511 , 2024
Link: https://doi.org/10.1016/..
 
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3

Imbalanced mitochondrial dynamics contributes to the pathog..:

Launay, Nathalie ; Lopez-Erauskin, Jone ; Bianchi, Patrizia...
Brain.  147 (2024)  6 - p. 2069-2084 , 2024
Link: https://doi.org/10.1093/..
 
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4

Structure and mechanisms of transport of human Asc1/CD98hc ..:

Rullo-Tubau, Josep ; Martinez-Molledo, Maria ; Bartoccioni, Paola...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

Identification and characterization of a new pathologic mut..:

Emperador, Sonia ; Habbane, Mouna ; López-Gallardo, Ester...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Pa..:

Adel, Maja R. ; Antón-Galindo, Ester ; Gago-Garcia, Edurne...
Pharmaceuticals.  17 (2024)  2 - p. 254 , 2024
Link: https://doi.org/10.3390/..
 
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7

Benefits of using exchangeable copper and the ratio of exch..:

Mariño, Zoe ; Molera‐Busoms, Cristina ; Badenas, Celia...
Journal of Inherited Metabolic Disease.  46 (2023)  5 - p. 982-991 , 2023
Link: https://doi.org/10.1002/..
 
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8

Correction to: implementation of second-tier tests in newbo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Exploring the Contribution of the Transporter AGT1/rBAT in ..:

Mayayo-Vallverdú, Clara ; Prat, Esther ; Vecino-Pérez, Marta...
International Journal of Molecular Sciences.  24 (2023)  24 - p. 17140 , 2023
Link: https://doi.org/10.3390/..
 
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10

Unravelling inclusion body myositis using a patient‐derived..:

Cantó‐Santos, Judith ; Valls‐Roca, Laura ; Tobías, Ester...
Journal of Cachexia, Sarcopenia and Muscle.  14 (2023)  2 - p. 964-977 , 2023
Link: https://doi.org/10.1002/..
 
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11

Fibroblast phenylalanine concentration as a surrogate bioma..:

Oliva, Clara ; Arias, Angela ; Ruiz, Montserrat...
Journal of Chromatography B.  1226 (2023)  - p. 123787 , 2023
Link: https://doi.org/10.1016/..
 
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12

Metabolic characterization of neurogenetic disorders involv..:

Illescas, Sofía ; Diaz‐Osorio, Yaiza ; Serradell, Anna...
Journal of Inherited Metabolic Disease.  47 (2023)  3 - p. 551-569 , 2023
Link: https://doi.org/10.1002/..
 
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13

Integrated Multi-Omics Analysis for Inferring Molecular Pla..:

Cantó-Santos, Judith ; Valls-Roca, Laura ; Tobías, Ester...
Antioxidants.  12 (2023)  8 - p. 1639 , 2023
Link: https://doi.org/10.3390/..
 
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14

CRISPR/Cas9‐based functional genomics strategy to decipher ..:

Muñoz‐Pujol, Gerard ; Ugarteburu, Olatz ; Segur‐Bailach, Eulàlia...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1029-1042 , 2023
Link: https://doi.org/10.1002/..
 
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15

The antioxidant l-Ergothioneine prevents cystine lithiasis ..:

Mayayo-Vallverdú, Clara ; López de Heredia, Miguel ; Prat, Esther...
Redox Biology.  64 (2023)  - p. 102801 , 2023
Link: https://doi.org/10.1016/..
 
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