Ventura, FLeandro, PAlmeida, ITavares de2015-12-302015-12-3020031º SIMPóSIO DA SOCIEDADE PORTUGUESA DE DOENçAS METABóLICAS, p. P30-P30http://hdl.handle.net/10451/21762application/pdfengPrimary systemic carnitine deficiencydevelopment of a screnning method for identification of mutations affecting the OCTN2 gene.journal article