CGI |
clinical global impression |
CSF |
cerebrospinal fluid |
GMFCS |
gross motor functions classification system |
LC-FAOD |
long-chain fatty acid oxidation disorders |
LLN |
lower limit of normal |
MACS |
manual ability classification system |
MAS |
malate-aspartate shuttle |
MCTs |
medium-chain triglycerides |
MDH2 |
mitochondrial malate dehydrogenase |
MDH2D |
MDH2 deficiency |
MRI |
magnetic resonance imaging |
OXPHOS |
oxidative phosphorylation |
PEG tube |
percutaneous endoscopic gastrostomy tube |
RC |
respiratory chain |
TCA cycle |
tricarboxylic acid cycle |
trio-WES |
trio-whole-exome sequencing |
ULN |
upper limit of normal |