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publicationName Journal of Inherited Metabolic Disease
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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.
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language English
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title 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
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