Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056.
作者信息
Oizumi J, Donnell G N, Ng W G, Mulivor R A, Greene A E, Coriell L L
出版信息
Cytogenet Cell Genet. 1984;38(1):80. doi: 10.1159/000132035.
PMID:6705569
Abstract
摘要
相似文献
1
Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056.与丙酮酸羧化酶缺乏相关的先天性乳酸性酸中毒。储存库识别号GM6056。
Cytogenet Cell Genet. 1984;38(1):80. doi: 10.1159/000132035.
2
Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency.一例因丙酮酸脱羧酶缺乏导致的先天性乳酸酸中毒患者的尿有机酸分析
J Inherit Metab Dis. 1978;1(1):15-6. doi: 10.1007/BF01805708.
3
A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.1例丙酮酸羧化酶缺乏症病例及对1名未受影响同胞的产前诊断
J Inherit Metab Dis. 1983;6(3):85-8. doi: 10.1007/BF01800730.
4
Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency.对一名因丙酮酸脱羧酶缺乏导致先天性乳酸性酸中毒患者尿液有机酸的气相色谱和质谱研究。
Clin Chim Acta. 1977 Jun 1;77(2):117-24. doi: 10.1016/0009-8981(77)90018-3.
5
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.伴有严重乳酸酸中毒和高氨血症的部分丙酮酸脱羧酶缺乏症：对二氯乙酸和苯甲酸盐的反应
Am J Med Genet. 1985 Oct;22(2):291-9. doi: 10.1002/ajmg.1320220211.
6
Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.对28例患有乳酸酸中毒且与 Leigh 脑脊髓病相关的儿童进行的生化研究。
Eur J Pediatr. 1985 Mar;143(4):278-83. doi: 10.1007/BF00442301.
7
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.人类丙酮酸脱羧酶活性缺失：先天性乳酸性酸中毒的一个病因。
Science. 1975 Mar 21;187(4181):1082-4. doi: 10.1126/science.803713.
8
Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase.伴有丙酮酸羧化酶和丙酮酸脱羧酶活性降低的 Leigh 病
J Inherit Metab Dis. 1980;2(1):15-8. doi: 10.1007/BF01805557.
9
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.早发型和晚发型全羧化酶合成酶缺乏所致生物素反应性多种羧化酶缺乏症中的乳酸酸中毒
J Pediatr. 1982 Oct;101(4):546-50. doi: 10.1016/s0022-3476(82)80697-5.
10
Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.一名患有 Leigh 型脑脊髓病患者的丙酮酸脱羧酶缺乏症
Tohoku J Exp Med. 1982 Aug;137(4):379-86. doi: 10.1620/tjem.137.379.
引用本文的文献
1
Asparagine protects pericentral hepatocytes during acute liver injury.天冬酰胺在急性肝损伤中保护中央区肝细胞。
J Clin Invest. 2023 Apr 3;133(7):e163508. doi: 10.1172/JCI163508.
2
Asparagine plays a critical role in regulating cellular adaptation to glutamine depletion.天冬酰胺在调节细胞适应谷氨酰胺缺乏方面起着关键作用。
Mol Cell. 2014 Oct 23;56(2):205-218. doi: 10.1016/j.molcel.2014.08.018. Epub 2014 Sep 18.
Zotero 插件