Rafael Artuch

发表

El laboratorio en el diagnóstico de las enfermedades raras

Rafael Artuch, J. Moreno, R. M. Puig, 2008 .

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Plasma coenzyme Q10 status is impaired in selected genetic conditions

Eduardo Ruiz-Pesini, Julio Montoya, Rafael Artuch, 2019, Scientific Reports.

Two novel mutations in the BCKDK gene ( branched-chain keto-acid dehydrogenase kinase ) are responsible of a neurobehavioral deficit in two pediatric unrelated patients

Joaquín Dopazo, Joana, Rafael Artuch, 2014 .

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Rafael Artuch, Aida Ormazabal, Francesc Palau, 2016, PloS one.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Belén Pérez, Rafael Artuch, Alfons Macaya, 2018, Journal of Medical Genetics.

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Rafael Artuch, Aida Ormazabal, Keith Hyland, 2008, Molecular genetics and metabolism.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Rafael Artuch, Jaume Campistol, R. Artuch, 2004, Clinical biochemistry.