Mutations of the E1β subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency
- 30 April 2008
- journal article
- case report
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 93 (4), 371-380
- https://doi.org/10.1016/j.ymgme.2007.10.135