Result: Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

*Title*:

*Author/editor-in-chief*:

*Corporate*:

*Publication*:

Freiburg : Universität, 2017

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

BMC medical genetics. 16 (2015), 56, DOI 10.1186/s12881-015-0199-5, ISSN: 1471-2350

*DOI*:

10.1186/s12881-015-0199-5

*Result*: Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening