Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • 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: 16

    [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: 20

    [doi:10.3171/2018.5.PEDS1814]

  • Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol-Plana J, Garcia-Cazorla A, Pérez-Dueñas B, Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B and Orcesi S.

    Encephalopathies with intracranial calcification in children: clinical and genetic characterization

    ORPHANET JOURNAL OF RARE DISEASES . 13: 135-135. Nº de citas: 15

    [doi:10.1186/s13023-018-0854-y]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de citas: 7

    [doi:10.1111/dmcn.13746]

  • Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.

    Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

    ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Nº de citas: 13

    [doi:10.1186/s13023-018-0840-4]

  • Fons-Estupina C.

    Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.

    REVISTA DE NEUROLOGIA . 66(s02): 61-69.

  • Casado-Rio M, Sierra-March C, Batllori-Tragant M, Artuch-Iriberri R and Ormazabal-Herrero A.

    A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry

    Metabolomics . 14(6): 76-76. Nº de citas: 30

    [doi:10.1007/s11306-018-1374-4]

  • Vilches C, Boiadjieva-Knopfel E, Bodoy S, Camargo S, Lopez de Heredia M, Prat-Reixach E, Ormazabal-Herrero A, Artuch-Iriberri R, Zorzano A, Verrey F, Nunes V and Palacin M.

    Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids

    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY . 29(6): 1624-1635. Nº de citas: 20

    [doi:10.1681/ASN.2017111205]

  • González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra-March C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch-Iriberri R, Ezquerra M, Fernández-Santiago R and Garrabou G.

    Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations

    NEUROBIOLOGY OF AGING . 65: 206-216. Nº de citas: 15

    [doi:10.1016/j.neurobiolaging.2018.01.021]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de citas: 4

    [doi:10.33588/rn.6607.2017498]