Rafael Artuch Iriberri

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 2018. 41(6): 1147-1158. Nº de citas: 9

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

Yubero-Siles D and Artuch-Iriberri R.

NGS for Metabolic Disease Diagnosis.

ejifcc 2018. 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 2018. 13: 188-188. Nº de citas: 17

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

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 2018. 60(8): 780-792. Nº de citas: 7

[doi:10.1111/dmcn.13746]

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 2018. 14(6): 76-76. Nº de citas: 28

[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 2018. 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 2018. 65: 206-216. Nº de citas: 14

[doi:10.1016/j.neurobiolaging.2018.01.021]

Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch-Iriberri R, López-Gallardo E, Bayona-Bafaluy MP, Montoya C and Ruiz-Pesini E.

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

FRONTIERS IN NEUROSCIENCE 2018. 12: 61-61. Nº de citas: 16

[doi:10.3389/fnins.2018.00061]

Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2018. 19(2): 619. Nº de citas: 34

[doi:10.3390/ijms19020619]

Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

ORPHANET JOURNAL OF RARE DISEASES 2018. 13: 28-28. Nº de citas: 37

[doi:10.1186/s13023-018-0758-x]