Publicaciones
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Sierra-March C, Vilaseca MA, Brandi-Tarrau N, Artuch-Iriberri R, Mira A, Nieto M and Pineda M.
Oxidative stress in Rett syndrome
BRAIN & DEVELOPMENT . 23: 236-239. Nº de citas: 61
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Vilaseca MA, Sierra-March C, Colomé C, Artuch-Iriberri R, Valls C, Munoz-Almagro C, Vilches MA and Fortuny-Guasch C.
Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus-infected children
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION . 31(11): 992-998. Nº de citas: 17
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Colomé C, Artuch-Iriberri R, Lambruschini N, Cambra-Lasaosa FJ, Campistol-Plana J and Vilaseca MA.
Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?
CLINICAL BIOCHEMISTRY . 34(5): 373-376. Nº de citas: 23
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Artuch-Iriberri R, Colomé C, Vilaseca MA, Sierra-March C, Cambra-Lasaosa FJ, Lambruschini N and Campistol-Plana J.
Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria
JOURNAL OF INHERITED METABOLIC DISEASE . 24(3): 359-366. Nº de citas: 27
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Calvo M, Artuch-Iriberri R, Macià E, Luaces-Cubells C, Vilaseca MA, Pou Fernández J and Pineda M.
Diagnostic approach to inborn errors of metabolism in an emergency unit
PEDIATRIC EMERGENCY CARE . 16(6): 405-408. Nº de citas: 21
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Coelho-Miranda L, Playan A, Artuch-Iriberri R, Vilaseca MA, Colomer J, Briones P, Coll-Cantí J, Conill J, Sans A, López de Munain A, Solano A, Alcaine MJ, Montoya J and Pineda M.
Mitochondrial encephalomyopathy, lactic acidosis and cerebrovascular accidents (MELAS) in children with the A3243G mutation of the tRNA(Leu)(UUR) gene of DNA mitochondria
REVISTA DE NEUROLOGIA . 31(9): 804-811. Nº de citas: 8
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Colomé C, Ferrer I, Artuch-Iriberri R, Vilaseca MA, Pineda M and Briones P.
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation
CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 38(10): 965-969. Nº de citas: 12
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Pineda M, Vilaseca MA, Artuch-Iriberri R, Santos, S, Gonzalez, MMG, Sau, I, Aracil A, Van Schaftingen, E and Jaeken, J.
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 42(9): 629-633. Nº de citas: 36
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Artuch-Iriberri R, Colome, C, Playan, A, Alcaine, MJ, Briones, P, Montoya, J, Vilaseca MA and Pineda M.
Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases
CLINICAL BIOCHEMISTRY . 33(6): 481-485. Nº de citas: 11
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Colomer J, Iturriaga, C, Bestue, M, Artuch-Iriberri R, Briones, P, Montoya, J, Vilaseca MA and Pineda M.
Characterization of the neuropathy in mitochondrial disorders
REVISTA DE NEUROLOGIA . 30(12): 1117-1121. Nº de citas: 9