Publicacions
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Espinós C, Garcia-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F and Artuch-Iriberri R.
Ancient origin of the CTH alelle carrying the c. 200C>T (p.T67I) variant in patients with cystathioninuria
CLINICAL GENETICS . 78(6): 554-559. Nº de cites: 10
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Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Nº de cites: 47
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De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de cites: 31
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Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Vilaseca MA and Artuch-Iriberri R.
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
JOURNAL OF INHERITED METABOLIC DISEASE . 33: 43-49. Nº de cites: 2
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Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch-Iriberri R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D and Balcells S.
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency
CLINICAL GENETICS . 78(5): 441-448. Nº de cites: 16
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Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mitochondrion . 10(5): 429-432. Nº de cites: 47
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Pineda M, Montero-Sanchez R, Aracil A, O'Callaghan-Gordo M, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P and Artuch-Iriberri R.
Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
MOVEMENT DISORDERS . 25(9): 1262-1268. Nº de cites: 42
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Pons R, Serrano M, Ormazabal-Herrero A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B and Artuch-Iriberri R.
Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation
MOVEMENT DISORDERS . 25(8): 1086-1090. Nº de cites: 17
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Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Moreno J, Tondo M, Artuch-Iriberri R and Campistol-Plana J.
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin
CLINICAL BIOCHEMISTRY . 43(4-5): 411-415. Nº de cites: 17
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Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.
Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Nº de cites: 10