相似文献
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Variant maple syrup urine disease in mother and daughter.母女患变异型枫糖尿症。
Can Med Assoc J. 1973 Aug 18;109(4):299-300 passim.
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Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.一名19岁女性分支链酮酸尿症变异型的生化研究。
Pediatrics. 1971 Nov;48(5):795-801.
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Intermittent branched chain ketonuria (variant of maple syrup urine disease).间歇性支链酮尿症（枫糖尿症变异型）
Clin Biochem. 1971 Jun;4(2):52-8. doi: 10.1016/s0009-9120(71)90611-4.
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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。
Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.
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[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency].[亮氨酸血症的异质性。临床表现、蛋白质耐受性与酶缺乏之间的相关性]
Arch Fr Pediatr. 1982 Dec;39 Suppl 2:735-40.
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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
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:138-9.
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Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.枫糖尿症：培养成纤维细胞中支链酮酸脱羧作用的分析
Pediatr Res. 1975 Sep;9(9):709-17. doi: 10.1203/00006450-197509000-00005.
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[Maple syrup urine disease with an intermittent relatively benign course].[间歇性相对良性病程的枫糖尿症]
Dtsch Med Wochenschr. 1971 Oct;96(40):1552-7. doi: 10.1055/s-0028-1110178.
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Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.间歇性支链酮尿症。枫糖尿症的变异型。
N Engl J Med. 1967 Jan 12;276(2):84-9. doi: 10.1056/NEJM196701122760204.
引用本文的文献
1
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.新生儿筛查漏诊的硫胺素反应性枫糖尿症：一例报告
Mol Genet Metab Rep. 2025 Aug 7;44:101244. doi: 10.1016/j.ymgmr.2025.101244. eCollection 2025 Sep.
2
Successful domino liver transplantation in maple syrup urine disease using a related living donor.使用亲属活体供体成功进行枫糖尿症的多米诺肝移植。
Braz J Med Biol Res. 2014 Jun;47(6):522-6. doi: 10.1590/1414-431x20143830. Epub 2014 Apr 25.
3
Inborn errors of metabolism. Vitamin-responsive genetic disease.先天性代谢缺陷。维生素反应性遗传病。
J Clin Pathol Suppl (R Coll Pathol). 1974;8:38-47.
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Maple syrup urine disease: two different forms within a single family.枫糖尿症：一个家族中的两种不同形式。
Hum Genet. 1985;71(1):89-91. doi: 10.1007/BF00295676.
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Management of maple syrup urine disease in Canada. Committee for improvement of Hereditary Disease Management.加拿大枫糖尿症的管理。遗传性疾病管理改善委员会。
Can Med Assoc J. 1976 Nov 20;115(10):1005-13.
本文引用的文献
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[LEUCINOSIS: A VARIANT OF BRANCHED-CHAIN KETO-ACIDURIA].[亮氨酸血症：支链酮酸尿症的一种变体]
Pediatrie. 1965 Mar;20:147-52.
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LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).
Acta Paediatr (Stockh). 1964 Jul;53:356-64. doi: 10.1111/j.1651-2227.1964.tb07789.x.
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MAPLE SYRUP URINE DISEASE. REPORT OF TWO CASES.
Am J Dis Child. 1963 Sep;106:258-66. doi: 10.1001/archpedi.1963.02080050260003.
5
Methylmalonic acidemia and vitamin B12 dependency.甲基丙二酸血症与维生素B12依赖症
Acta Paediatr Scand. 1970 Jan;59(1):88-9. doi: 10.1111/j.1651-2227.1970.tb15520.x.
6
A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。
Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.
7
Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.一名19岁女性分支链酮酸尿症变异型的生化研究。
Pediatrics. 1971 Nov;48(5):795-801.
8
A variant form of branched-chain keto aciduria.支链酮酸尿症的一种变异形式。
Acta Paediatr Scand. 1971 Sep;60(5):594-9. doi: 10.1111/j.1651-2227.1971.tb06996.x.
9
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.
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