Publicacions
-
Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.
Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier
MEDICINA CLINICA . 127(3): 81-85. Nº de cites: 7
-
Pérez-Dueñas B, Pujol J, Soriano-Mas C, Ortiz H, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.
Global and regional volume changes in the brains of patients with phenylketonuria
Neurology . 66(7): 1074-1078. Nº de cites: 35
-
Poo P, Arias A, Vilaseca MA, Ribes A, Artuch-Iriberri R, Sans A, Moreno A, Jakobs C and Salomons G.
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
JOURNAL OF INHERITED METABOLIC DISEASE . 29(1): 220-223. Nº de cites: 64
-
Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de cites: 92
-
Ormazabal-Herrero A, Artuch-Iriberri R, Vilaseca MA, Aracil A and Pineda M.
Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: Treatment with folinic acid
Neuropediatrics . 36(6): 380-385. Nº de cites: 31
-
Ormazabal-Herrero A, Vilaseca MA, Pérez-Dueñas B, Lambruschini N, Gomez-Lopez L, Campistol-Plana J and Artuch-Iriberri R.
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment
JOURNAL OF INHERITED METABOLIC DISEASE . 28(6): 863-870. Nº de cites: 20
-
Lambruschini N, Pérez-Dueñas B, Vilaseca MA, Mas A, Artuch-Iriberri R, Gassió-Subirachs R, Gomez-Lopez L, Gutiérrez A and Campistol-Plana J.
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
MOLECULAR GENETICS AND METABOLISM . 86: 54-60. Nº de cites: 81
-
Millet P, Vilaseca MA, Valls C, Pérez-Dueñas B, Artuch-Iriberri R, Gomez-Lopez L, Lambruschini N and Campistol-Plana J.
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
CLINICAL BIOCHEMISTRY . 38(12): 1127-1132. Nº de cites: 26
-
Pérez-Dueñas B, Valls-Solé J, Fernández-Alvarez E, Conill J, Vilaseca MA, Artuch-Iriberri R and Campistol-Plana J.
Characterization of tremor in phenylketonuric patients
JOURNAL OF NEUROLOGY . 252(11): 1328-1334. Nº de cites: 25
-
Gassió-Subirachs R, Fusté E, López-Sala A, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.
School performance in early and continuously treated phenylketonuria
PEDIATRIC NEUROLOGY . 33(4): 267-271. Nº de cites: 55