Glutaric aciduria in two brothers.
作者信息
Brandt N J, Gregersen N, Christensen E, Rasmussen K
出版信息
J Inherit Metab Dis. 1978;1(1):13-4. doi: 10.1007/BF01805707.
PMID:117228
Abstract
摘要
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Glutaric aciduria in two brothers.两兄弟患戊二酸尿症。
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引用本文的文献
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Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
Eur J Pediatr. 2003 Dec;162 Suppl 1:S17-20. doi: 10.1007/s00431-003-1344-2. Epub 2003 Oct 25.
本文引用的文献
1
Propionic acidemia in patients with ketotic hyperglycinemia.酮症性高甘氨酸血症患者的丙酸血症
J Pediatr. 1971 May;78(5):827-32. doi: 10.1016/s0022-3476(71)80354-2.
2
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia.异戊酸血症：在一名先前报告患有丁酸血症和己酸血症的患者尿液中鉴定出异戊酸、异戊酰甘氨酸和3-羟基异戊酸。
J Pediatr. 1973 Feb;82(2):243-8. doi: 10.1016/s0022-3476(73)80161-1.
3
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.3-羟基丙酸：丙酸血症和甲基丙二酸血症患者中丙酸β氧化的意义
Proc Natl Acad Sci U S A. 1972 Oct;69(10):2807-11. doi: 10.1073/pnas.69.10.2807.
4
D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome.
Acta Paediatr Scand. 1976 Jan;65(1):17-22. doi: 10.1111/j.1651-2227.1976.tb04401.x.
5
Glutaric aciduria type II: report on a previously undescribed metabolic disorder.II型戊二酸尿症：关于一种此前未被描述的代谢紊乱疾病的报告。
Clin Chim Acta. 1976 Jan 16;66(2):227-39. doi: 10.1016/0009-8981(76)90060-7.
6
Glutaric aciduria; presence of glutaconic and beta-hydroxyglutaric acids in urine.戊二酸尿症；尿液中存在戊烯二酸和β-羟基戊二酸。
Biochem Med. 1975 Apr;12(4):386-91. doi: 10.1016/0006-2944(75)90071-x.
7
Glutaric aciduria; a "new" disorder of amino acid metabolism.戊二酸尿症；一种氨基酸代谢的“新”紊乱症。
Biochem Med. 1975 Jan;12(1):12-21. doi: 10.1016/0006-2944(75)90091-5.
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