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  • Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.

    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Number of citations: 47

    [doi:10.1186/1750-1172-9-92]

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.

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

    HUMAN MUTATION . 35(4): 470-477. Number of citations: 63

    [doi:10.1002/humu.22513]

  • De Oyarzabal-Sanz AL, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M and Rodríguez-Pombo P.

    A Novel Regulatory Defect in the Branched-Chain -Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

    HUMAN MUTATION . 34(2): 355-362. Number of citations: 59

    [doi:10.1002/humu.22242]