Work

The emerging role of citrate as a diagnostic biomarker in SLC13A5 ‐developmental and epileptic encephalopathy

Year: 2026

Type: article

Study design: Case Report

Source: Epileptic Disorders

DOI: 10.1002/epd2.70178

Authors: Laia Nou‐Fontanet, Noelia Muñoz‐Puga, Irene Madrigal, Gemma Arca, Itziar Alonso‐Colmenero, Rafael Artuch, Carmen Fons

Institutions: Hospital Sant Joan de Déu Barcelona, Institut de Recerca Sant Joan de Déu, Universitat de Barcelona, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital Clínic de Barcelona, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Instituto de Salud Carlos III

Awards: Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso., MAPAS DE CONECTIVIDAD FUNCIONAL CEREBRAL Y NEURODESARROLLO EN EPILEPSIAS PEDIÁTRICAS DE DEBUT PRECOZ (Proyecto EPI-NEUROMAPS)

OpenAlex ID: W7128491546

FWCI:

Cites: 19

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