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机译:Lipt1缺乏呈现为早期婴儿癫痫脑病,Leigh病和次级丙酮酸脱氢酶复杂缺乏
Department of Pediatrics Section of Pediatric Neurology and Developmental NeuroscienceBaylor;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
early infantile epileptic encephalopathy; global metabolomic profile; ketogenic diet; lipoyltransferase 1; pyruvate dehydrogenase deficiency; whole exome sequencing;
机译:Lipt1缺乏呈现为早期婴儿癫痫脑病,Leigh病和次级丙酮酸脱氢酶复杂缺乏
机译:丙酮酸脱氢酶复合体缺乏症是亚急性坏死性脑病(利氏病)的原因
机译:硫胺素反应性丙酮酸脱氢酶复合物缺乏症:利氏病的潜在可治疗原因
机译:红细胞代谢网络对丙酮酸激酶缺乏症的反应
机译:丙酮酸脱氢酶激酶4缺乏症和肝脂肪变性。
机译:人类脂酰转移酶基因LIPT1的突变导致Leigh病继而缺乏丙酮酸和α-酮戊二酸脱氢酶
机译:人类脂酰转移酶基因LIPT1的突变会导致利氏病,继发于丙酮酸和α-酮戊二酸脱氢酶缺乏症。