关键词: Glutaric acidemia Hereditary spastic paraplegia
Mesh : Adult Carnitine / analogs & derivatives blood Epilepsy, Temporal Lobe / genetics Female Frameshift Mutation Homozygote Humans Intellectual Disability / genetics Multiple Acyl Coenzyme A Dehydrogenase Deficiency / blood complications genetics N-Acetylgalactosaminyltransferases / genetics Spastic Paraplegia, Hereditary / complications genetics
来 源:
DOI:10.1016/j.clineuro.2019.105553
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