关键词: Clinical exome sequencing Leigh syndrome SLC19A3 SLC25A19 TPK1 Thiamine metabolism dysfunction syndrome (THMD)
Mesh : Asians Biotin / therapeutic use Brain / diagnostic imaging pathology Brain Diseases / diagnosis diagnostic imaging genetics physiopathology Child, Preschool DNA, Mitochondrial / genetics Female High-Throughput Nucleotide Sequencing Humans Infant Ketoglutaric Acids / urine Leigh Disease / diagnosis diagnostic imaging genetics physiopathology Magnetic Resonance Imaging Male Membrane Transport Proteins / genetics Metabolic Diseases / diagnosis diagnostic imaging genetics physiopathology Mitochondrial Membrane Transport Proteins / genetics Thiamin Pyrophosphokinase / genetics Thiamine / genetics metabolism therapeutic use
来 源:
DOI:10.1016/j.ejmg.2020.104003
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