The following new articles have just been published in Orphanet Journal of Rare Diseases
For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.Research
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndromeQuijada-Fraile P, O’Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón A, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal A, Pineda M, García-Silva MT, Artuch R
Orphanet Journal of Rare Diseases 2014, 9 :3 (24 December 2014)
Barnett C, Katzberg H, Keshavjee S, Bril V
Orphanet Journal of Rare Diseases 2014, 9 :2 (24 December 2014)
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative studySánchez-Guiu I, Antón AI, Padilla J, Velasco F, Lucia JF, Lozano M, Cid A, Sevivas T, Lopez-Fernandez MF, Vicente V, González-Manchón C, Rivera J, Lozano ML
Orphanet Journal of Rare Diseases 2014, 9 :1 (24 December 2014)
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