Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de citas: 13

    [doi:10.3390/jcm8010068]

  • van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch-Iriberri R and Hennekam RCM.

    Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

    JIMD Reports . 45: 65-69. Nº de citas: 2

    [doi:10.1007/8904_2018_138]

  • Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics . 49(6): 408-413. Nº de citas: 5

    [doi:10.1055/s-0038-1673332]

  • Quintero J, Molera C, Juamperez J, Redecillas S, Meavilla-Olivas SM, Nuñez R, García C, Del Toro M, Garcia Á, Ortega J, Segarra Ó, Martín-de-Carpi J, Bilbao I and Charco R.

    The Role of Liver Transplantation in Propionic Acidemia

    LIVER TRANSPLANTATION . 24(12): 1736-1745. Nº de citas: 23

    [doi:10.1002/lt.25344]

  • Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    HUMAN MUTATION . 39(12): 1752-1763. Nº de citas: 35

    [doi:10.1002/humu.23638]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de citas: 11

    [doi:10.1007/s10545-018-0224-x]

  • Yubero-Siles D and Artuch-Iriberri R.

    NGS for Metabolic Disease Diagnosis.

    ejifcc . 29(3): 227-229. Nº de citas: 3

  • González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Colomé-Roura R, Artuch-Iriberri R and Campistol-Plana J.

    White matter microstructural damage in early treated phenylketonuric patients

    ORPHANET JOURNAL OF RARE DISEASES . 13: 188-188. Nº de citas: 22

    [doi:10.1186/s13023-018-0912-5]

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de citas: 19

    [doi:10.1097/MCD.0000000000000237]

  • Candela-Cantó SA, Vanegas-Grisales MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart-Lopez J, Climent A, Ferrer Vidal-Barraquer E, Rumià J and Pérez-Dueñas B.

    Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 22(4): 416-425. Nº de citas: 28

    [doi:10.3171/2018.5.PEDS1814]