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Thiamine-responsive maple-syrup-urine disease.

作者信息

Scriver C R, Mackenzie S, Clow C L, Delvin E

出版信息

Lancet. 1971 Feb 13;1(7694):310-2. doi: 10.1016/s0140-6736(71)91041-5.

DOI:10.1016/s0140-6736(71)91041-5
PMID:4100151
Abstract
摘要

相似文献

1
Thiamine-responsive maple-syrup-urine disease.硫胺素反应性枫糖尿症
Lancet. 1971 Feb 13;1(7694):310-2. doi: 10.1016/s0140-6736(71)91041-5.
2
Maple syrup urine disease--a case report.枫糖尿症——病例报告
Indian Pediatr. 1972 Oct;9(10):629-33.
3
[Long-term dietetic treatment of valine-leucinuria (maple syrup urine disease)].缬氨酸-亮氨酸尿症（枫糖尿症）的长期饮食治疗
Z Kinderheilkd. 1967;99(4):273-88.
4
Reduction of plasma concentrations of large neutral amino acids in patients with maple syrup urine disease during crises.枫糖尿症患者在疾病发作期血浆中大中性氨基酸浓度的降低。
Arch Dis Child. 1999 Jun;80(6):579. doi: 10.1136/adc.80.6.579.
5
[A case of maple syrup urine disease. Biochemical study].
Minerva Pediatr. 1972 Dec 15;24(43):2143-9.
6
Plasma amino acid analyses in two cases of maple syrup urine disease.两例枫糖尿症的血浆氨基酸分析
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7
Family with intermittent maple syrup urine disease.患有间歇性枫糖尿症的家族。
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8
[Maple syrup urine disease. Description of a case (classical form) and clinico-therapeutic considerations].[枫糖尿症。1例病例（经典型）描述及临床治疗考量]
Minerva Pediatr. 1973 Apr 14;25(13):604-12.
9
Maple syrup urine disease.枫糖尿症
Proc R Soc Med. 1968 Mar;61(3):287. doi: 10.1177/003591576806100335.
10
DNA damage induced by alloisoleucine and other metabolites in maple syrup urine disease and protective effect of l-carnitine.枫糖尿症中异亮氨酸和其他代谢物引起的 DNA 损伤及左旋肉碱的保护作用。
Toxicol In Vitro. 2019 Jun;57:194-202. doi: 10.1016/j.tiv.2019.03.007. Epub 2019 Mar 7.

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