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www.ciberer.es

• P r, s d, y s, o i, d a, c b, o a, G-
Most relevant onsyrenGelasouroukosrFanouinoPoulosorMandrMazabalarzía
cazorla a, serrano M, artuch r. Levodopa-induced dyskinesias in tyrosine hydroxylase
scientific
deficiency. Mov Disord. 2013 Jul;28(8):1058-63.
articles
• Molero-luis M, serrano M, orMazábal a, Pérez-dueñas b, García-cazorla a, Pons r, artuch
r Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

Neurotransmitter Working Group. Dev Med Child Neurol. 2013 Jun;55(6):559-66.

• Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pérez-
d b, s M, r M, M J, G e, d c, a r. Pediatrics. 2013
ueñaserranoebollouchartarGallouPuitsrtuch
May;131(5):e1670-5.

• Protein expression profiles in patients carrying NFU1 mutations. Contribution to the
pathophysiology of the disease. F-c X, F a, b n, n-s a, M-
errerortèsontuJanaVarroastrea
talonGa l, arranz Ja, riudor e, del toro M,García-cazorla a, caMPistol J, briones P, ribes a,
t F. J Inherit Metab Dis. 2013 Sep;36(5):841-7.
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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes. Montero r, Grazina óí
M, lPez-Gallardo e, Montoya J, briones P, naVarro-sastre a, land JM, harGreaVes iP, artuch

r; Coenzyme Q10 Deficiency Study Group. Mitochondrion. 2013 Jul;13(4):337-41.

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Highlights
During 2013, we are developing several research projects funded by public and
private institutions. Nine of them are highlighted, since it has been funded by

the Instituto de Salud Carlos III (6) and by the European Union (3). The topics

related with these projects are neurometabolic diseases of neurotransmission and
vitamins, and mitochondrial disorders caused by Coenzyme Q10 deficiency. Re-

garding our main milestones, we have participated with other CIBERER groups in
the description of new genes associated with metabolic diseases. During 2013,

we have published 30 papers in international scientific journal indexed in PubMed,

most of them in the 1st and 2nd quartiles according to ISI Web of Knowledge.
We are involved in several clinical trials, which details are available on request

(www.fsjd.org). Concerning clinical guides and translational activities to socie-

ty, we have developed the web page www.guíametabolica.org, with more than
600.000 visits, and 2000 registered users worldwide. In this webpage, scientific

and general contents about 55 metabolic diseases are loaded, and we also offer
an on-line consult-service for patients at the national and international level. Our

researches are actively participating in several scientific and familial associations

in Spain and foreign countries related with rare diseases. As a fact of paramount
importance, during September 2013, our group together with the “Instituto de

Bioqumica Clnica de Barcelona”, organized the international congress of inborn

errors of metabolism (www.ICIEM.org) in Barcelona, with around 2500 partici-
pants. Details of this meeting are available in the SSIEM website.

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