Antonia Ribes

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Venues

Journal of clinical medicine

Human mutation

International journal of molecular sciences

Journal of inherited metabolic disease

Hospital Clínic de Barcelona

Universitat de Barcelona (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Clínic de Barcelona

Spain

Head of the Section of Inborn Errors of Metabolism :: Biochemistry and Molecular genetics

Education History

Universitat de Barcelona

Spain

PHD

Publications

Agustín Hidalgo-Gutiérrez, Jonathan Shintaku, Javier Ramón, Eliana Barriocanal-Casado, Alba Pesini, Russell P Saneto, Gloria Garrabou, Jose Cesar Milisenda, Ana Matas-Garcia, Laura Gort, Olatz Ugarteburu, Yue Gu, Lahari Koganti, Tian Wang, Saba Tadesse, Megi Meneri, Monica Sciacco, Shuang Wang, Kurenai Tanji, Marshall S Horwitz, Michael O Dorschner, Mahesh M Mansukhani, Giacomo Pietro Comi, Dario Ronchi, Ramon Ramon, Antonia Ribes, Frederic Tort, Michio Hirano
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease. Annals of neurology (2024)
Adriana Pané, Marcos Carrasco-Serrano, Camila Milad, Pere Leyes, Pedro Juan Moreno Lozano, Roser Ventura, José Cesar Milisenda, Francesc Josep García-García, Gloria Garrabou, Judit García-Villoria, Rosa Maria López-Galera, Antonia Ribes, Josep Maria Grau-Junyent, Maria de Talló Forga-Visa, Cristina Montserrat-Carbonell, null On Behalf Of Pku Cat Consortium
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report. Journal of clinical medicine 12 (23) (2023)
Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, Laura Gort, Judit García-Villoria, Susana Roldán, Frederic Tort, Antonia Ribes
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations. International journal of molecular sciences 24 (15) (2023)
Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D M van Karnebeek, Stefan Kölker, Alejandro Garanto
Exploring genotype-phenotype correlations in glutaric aciduria type 1. Journal of inherited metabolic disease (2023)
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, Laura Texido, Cèlia Painous, Yaroslau Compta, Maria José Martí, Antonia Ribes, Laura Gort
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease. Journal of clinical medicine 11 (6) (2022)
Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo-Pedro Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency. International journal of molecular sciences 23 (20) (2022)
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan Sami Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation 43 (3) (2022)
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martinez-Gallo, Marina Garcia-Prat, Roger Colobran, Jacques G Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacin
Newborn Screening for SCID. Experience in Spain (Catalonia). International journal of neonatal screening 7 (3) (2021)
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de Los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns. Orphanet journal of rare diseases 16 (1) (2021)
Frederic Tort, Olatz Ugarteburu, Laura Texidó, Sabrina Gea-Sorlí, Judit García-Villoria, Xènia Ferrer-Cortès, Ángela Arias, Leslie Matalonga, Laura Gort, Isidre Ferrer, Mariona Guitart-Mampel, Glòria Garrabou, Frederick M Vaz, Ana Pristoupilova, María Isabel Esteban Rodríguez, Sergi Beltran, Francesc Cardellach, Ronald Ja Wanders, Cristina Fillat, María Teresa García-Silva, Antonia Ribes
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Human mutation 40 (10) (2019)
Judit García-Villoria, Begoña De Azua, Frederic Tort, Signe Mosegaard, Olatz Ugarteburu, Laura Texidó, Blai Morales-Romero, Rikke K J Olsen, Antonia Ribes
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. Clinical genetics 94 (6) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Antonia Ribes