Abraham José Paredes-Fuentes

Publicacions destacades

• Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

  Autors:

  Minguez, Beatriz; de Los Santos, Mariela; Garcia-Volpe, Camila; Molera, Cristina; Paredes-Fuentes, Abraham J;

  (...)

  Yubero, Delia; Tondo, Mireia; Santos-Ocana, Carlos; Meavilla, Silvia; Artuch, Rafael.

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  Referència: Antioxidants 2024.

• New variants expand the neurological phenotype of COQ7 deficiency

  Autors:

  Fabra, Maria Alcazar; Paredes-Fuentes, Abraham J; Carnerero, Manuel Torralba; de Ayala, Daniel J Moreno Fernandez; Luque, Antonio Arroyo;

  (...)

  Rodriguez Aguilera, Juan Carlos; Calvo, Gloria Brea; Almenara, Maria Victoria Cascajo; Artuch, Rafael; Santos-Ocana, Carlos.

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  Referència: JOURNAL OF INHERITED METABOLIC DISEASE 2024.

• Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

  Autors:

  Launay, Nathalie; Lopez-Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani;

  (...)

  Paredes-Fuentes, Abraham J; Artuch, Rafael; Casasnovas, Carlos; Ruiz, Montserrat; Pujol, Aurora.

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  Referència: BRAIN 2024.

• Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme

  Autors:

  Pajares-Garcia, Sonia; de Aledo-Castillo, Jose Manuel Gonzalez; Flores-Jimenez, Jose Eduardo; Collado, Tatiana; Perez, Judit;

  Paredes-Fuentes, Abraham Jose; Argudo-Ramirez, Ana; Lopez-Galera, Rosa Maria; Prats, Blanca; Garcia-Villoria, Judit.

  Referència: CLINICAL CHEMISTRY AND LABORATORY MEDICINE 2024.

• Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

  Autors:

  Cascajo-Almenara, Marivi V; Julia-Palacios, Natalia; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M;

  (...)

  Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael.

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  Referència: EUROPEAN JOURNAL OF HUMAN GENETICS 2024.

• Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

  Autors:

  Painamil, Rodrigo Alfredo Morales; de Aledo-Castillo, Jose Manuel Gonzalez; Teresa-Palacio, Marta; Argudo-Ramirez, Ana; Lopez-Galera, Rosa M;

  Paredes-Fuentes, Abraham J; Aldecoa-Bilbao, Victoria; Alsina-Casanova, Miguel.

  Referència: International Journal Of Neonatal Screening 2023.

• Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

  Autors:

  Muñoz-Pujol, G; Ortigoza-Escobar, JD; Paredes-Fuentes, AJ; Jou, C; Ugarteburu, O;

  (...)

  Prokisch, H; Artuch, R; Ribes, A; Urreizti, R; Tort, F.

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  Referència: BRAIN PATHOLOGY 2023.

• Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

  Autors:

  Paredes-Fuentes, AJ; Oliva, C; Montero, R; Alcaide, P; Ruijter, GJG;

  García-Villoria, J; Ruiz-Sala, P; Artuch, R.

  Referència: Antioxidants 2022.

• Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

  Autors:

  Trifunov, Selena; Paredes-Fuentes, Abraham J; Badosa, Carmen; Codina, Anna; Montoya, Julio;

  (...)

  Nascimento, Andres; Catala, Albert; Garcia-Cazorla, Angels; Jimenez-Mallebrera, Cecilia; Artuch, Rafael.

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  Referència: CLINICAL CHEMISTRY 2021.

• Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

  Autors:

  Garcia-Cazorla, Angels; Verdura, Edgard; Julia-Palacios, Natalia; Anderson, Eric N; Goicoechea, Leire;

  (...)

  Klee, Eric W; Pandey, Udai Bhan; Artuch, Rafael; Cousin, Margot A; Pujol, Aurora.

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  Referència: ACTA NEUROPATHOLOGICA 2020.