Publications

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Mol Genet Metab. 2017 Apr;120(4):342-349
Pubmed Abstract

Download (PDF, 186KB)

See how Fabric Genomics’ (formerly Omicia) Opal and Omicia’s VAAST Trio Report algorithm was used.

archive Archive

Continue Reading