Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Peter Gerd Bross, Jane B Frederiksen, Anne Sigaard Bie, Jakob Hansen, Johan Palmfeldt, Marit N Nielsen, Morten Duno, Allan M Lund, Ernst Christensen

    5 Citations (Scopus)

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    Medicine & Life Sciences