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Research Interests

Papers共 215 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre,Maria Lourdes Arbonés, Sabrina Gea-Sorlí,Frederic Tort,Antonia Ribes,Judit García-Villoria,Cristina Fillat
Molecular Therapy - Methods & Clinical Developmentno. 3 (2024): 101276
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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, Angels García-Cazorla, Mar O'Callaghan, Jolanta Sykut-Cegielska,Jaume Campistol, Pedro Juan Moreno-Lozano, Machteld M Oud,Ron A Wevers, Dirk J Lefeber, Anna Esteve-Codina,
Molecular genetics and metabolismno. 3 (2024): 108511-108511
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Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH
Imke M E Schuurmans, Clara D M van Karnebeek, Anita D M Hoogendoorn,Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto
Stem cell research (2024): 103481-103481
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Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
Adriana Pane, Marcos Carrasco-Serrano, Camila Milad, Pere Leyes,Pedro Juan Moreno-Lozano, Roser Ventura,Jose Cesar Milisenda,Francesc Josep Garcia-Garcia,Gloria Garrabou,Judit Garcia-Villoria, Rosa Maria Lopez-Galera,Antonia Ribes,
JOURNAL OF CLINICAL MEDICINEno. 23 (2023): 7452
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A novel gross deletion in SLC25A15 gene not detected by regular WES analysis
Laura Gort, Laura Pacheco,Maria Unceta, Arantzazu Arza, Raquel Bernado, Javier Adolfo De las Heras,Antonia Ribes,Judit Garcia-Villoria
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 152-152
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