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. 2021 Oct 19;29:100814. doi: 10.1016/j.ymgmr.2021.100814
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