Rafael Artuch

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MD, PhD.. Head of clinical biochemistry Department

Hospital de la Santa Creu i Sant Pau

Spain

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Recent Grants

Grant: Close

Avances en el diagnóstico molecular de los defectos de la fosforilación oxidativa mitocondrial: validación de nuevos biomarcadores

Open Date: 2019-01-01

Close Date: 2023-01-01

Grant: Close

Biosensores para la monitorización de Enfermedades Metabólicas Hereditarias. Desarrollo y evaluación de prototipos funcionales para validación conceptual

Open Date: 2019-01-01

Close Date: 2020-01-01

Grant: Close

Diagnóstico molecular de los defectos de la fosforización oxidativa mitocondrial: patogénesis de las deficiencias de CoQ10

Open Date: 2018-01-01

Close Date: 2020-01-01

Grant: Close

Encefalomiopatías mitocondriales y deficiencias secundarias de coenzima Q10: Estudios en pacientes pediátricos, en modelos celulares y murinos

Open Date: 2015-01-01

Close Date: 2017-12-31

Grant: Close

CIBER de enfermedades raras (CIBERER)

Open Date: 2007-01-01

Close Date: 2020-01-01

Articles (10)

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2024

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2024

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2023

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2023

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2023

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Karlien L. M. Coene

NETHERLANDS

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Rafael Artuch

Research Interests

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Contact this professor

Recent Grants

Articles (10)

Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV

Exploring Plasma Coenzyme Q<sub>10</sub> Status in Paediatric Dyslipidaemia

Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter

Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine

A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation

Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

Collaborators (9)

Marta Giralt

Noèlia Fernàndez-Castillo

Ekaitz Errasti-Murugarren

Carlos Santos Ocaña

ORIOL ANGERRI

Xavier Forns

Erik de Vrieze

Bru Cormand

Karlien L. M. Coene

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