bibliographicCitation |
Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. 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. J Inherit Metab Dis. 2012 Sep;35(5):787–96. doi: 10.1007/s10545-011-9437-y. PMID: 22231382. |