通过腹膜透析治疗患有丙酸血症和严重高氨血症的新生儿。
Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
作者信息
Robert M F, Schultz D J, Wolf B, Cochran W D, Schwartz A L
出版信息
Arch Dis Child. 1979 Dec;54(12):962-5. doi: 10.1136/adc.54.12.962.
Abstract
A moribund newborn infant with propionic acidaemia and severe hyperammonaemia was successfully treated by peritoneal dialysis. The removal of ammonia and possibly additional toxic metabolites by peritoneal dialysis may be life-saving in newborn infants with propionic acidaemia or other hyperammonaemic syndromes.
摘要
一名患有丙酸血症和严重高氨血症的濒死新生儿通过腹膜透析成功治愈。对于患有丙酸血症或其他高氨血症综合征的新生儿，腹膜透析去除氨以及可能的其他有毒代谢产物可能是挽救生命的。
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本文引用的文献
1
Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.丙酸血症（酮症性高甘氨酸血症）：饮食治疗使生长发育正常。
Pediatrics. 1974 Mar;53(3):391-5.
2
Reduction of plasma propionate by peritoneal dialysis.
Pediatrics. 1974 Feb;53(2):281-3.
3
Peritoneal clearance of ammonia and creatinine in a neonate.
J Pediatr. 1973 Jun;82(6):1044-6. doi: 10.1016/s0022-3476(73)80440-8.
4
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
J Pediatr. 1975 May;86(5):707-12. doi: 10.1016/s0022-3476(75)80354-4.
5
Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups.丙酸辅酶A羧化酶缺乏症中的杂合子表达。主要互补组之间的差异。
J Clin Invest. 1978 Nov;62(5):931-6. doi: 10.1172/JCI109221.
6
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.培养的人成纤维细胞中丙酰辅酶A羧化酶缺乏症的基因互补
Am J Hum Genet. 1977 Jul;29(4):378-88.
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