Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. [electronic resource]
Producer: 20131017Description: 528-34 p. digitalISSN:- 1476-5438
- Alkyl and Aryl Transferases -- genetics
- Annexin A5 -- metabolism
- Base Sequence
- Brain -- pathology
- Cells, Cultured
- Child
- Epilepsy -- pathology
- Exome -- genetics
- Fibroblasts -- metabolism
- Globosides -- metabolism
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Mass Spectrometry
- Membrane Potential, Mitochondrial -- physiology
- Microsatellite Repeats -- genetics
- Mitochondrial Diseases -- pathology
- Molecular Sequence Data
- Pedigree
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sialyltransferases -- deficiency
- Spectrophotometry
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.