E. Castejón

发表

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2014, Analytical and Bioanalytical Chemistry.

Gastrointestinal involvement in pediatric polyarteritis nodosa.

J. Antón, V. Varea, P. Vilar, 2007, Journal of pediatric gastroenterology and nutrition.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

R. Artuch, J. Pascual, J. Campistol, 2014, Pediatric Neurology.

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations

A. García-Alix, B. Pérez-Dueñas, A. Martínez-Monseny, 2018, Human mutation.

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.

A. Ribes, R. Artuch, A. López-Sala, 2013, 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.

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 .

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

C. Pérez-Cerdá, M. Ugarte, M. Palacín, 2013, Molecular genetics and metabolism.

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

P. Navas, J. Armstrong, A. Ormazabal, 2014, BMC Pediatrics.

Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.

F. Sanmartí, A. Ormazabal, R. Artuch, 2015, Pediatric neurology.

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

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.