Publicacions
-
Sanz Marcos N, Malpique R, Sierra-March C, López-Bermejo A, Bassols J and Ibañez-Toda L.
Body Composition and Circulating Polyunsaturated Fatty Acids at Age 6 Years: A Longitudinal Pilot Study
HORMONE RESEARCH IN PAEDIATRICS . 90(6): 414-418.
-
Serrano M.
CIVIL SOCIETY AND RARE DISEASES
ARBOR-CIENCIA PENSAMIENTO Y CULTURA . 194(789): 459. Nº de cites: 1
-
Campistol-Plana J.
Trastornos paroxísticos no epilépticos en el lactante.
MEDICINA-BUENOS AIRES . 78 Suppl 2: 47-51.
-
Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency: an update
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Nº de cites: 20
-
Mancuso M, McFarland R, Klopstock T, Hirano M and consortium on Trial Readiness in Mitochondrial Myopathies.
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.
NEUROMUSCULAR DISORDERS . 27(12): 1126-1137. Nº de cites: 46
-
Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
SCIENTIFIC REPORTS . 7: 14675-14675. Nº de cites: 6
-
Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC
NATURE PROTOCOLS . 12(11): 2359-2375. Nº de cites: 24
-
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH and van Spronsen FJ.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
ORPHANET JOURNAL OF RARE DISEASES . 12(1): 162-162. Nº de cites: 466
-
Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de cites: 19
-
Casado-Rio M, Ferrer-Lopez, I, Ruiz-Sala, P, Perez-Cerda, C and Artuch-Iriberri R.
Urine oligosaccharide tests for the diagnosis of oligosaccharidoses
REVIEWS IN ANALYTICAL CHEMISTRY . 36(3): . Nº de cites: 7