Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleFunctional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.AuthorsFernández‐Guerra, Paula; Navarrete, Rosa; Weisiger, Kara; Desviat, Lourdes R.; Packman, Seymour; Ugarte, Magdalena; Rodríguez‐Pombo, PilarPublicationJournal of Inherited Metabolic Disease, 2010, Vol 33, p191ISSN0141-8955Publication typeArticleDOI10.1007/s10545-010-9077-7