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Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

作者信息

Sakura N, Ono H, Nomura S, Ueda H, Fujita N

机构信息

Department of Pediatrics, Hiroshima University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1998 Feb;21(1):84-5. doi: 10.1023/a:1005331902497.

DOI:10.1023/a:1005331902497
PMID:9501279
Abstract
摘要

相似文献

1
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
J Inherit Metab Dis. 1998 Feb;21(1):84-5. doi: 10.1023/a:1005331902497.
2
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.甜菜碱用于治疗由亚甲基四氢叶酸还原酶缺乏引起的同型胱氨酸尿症。
Arch Dis Child. 1989 Jul;64(7):1061-4. doi: 10.1136/adc.64.7.1061.
3
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.甜菜碱治疗因5,10-亚甲基四氢叶酸还原酶缺乏所致的同型胱氨酸尿症。
Eur J Pediatr. 1984 Jun;142(2):147-50. doi: 10.1007/BF00445602.
4
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
Neurology. 1991 Aug;41(8):1313-5. doi: 10.1212/wnl.41.8.1313.
5
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.因5,10-亚甲基四氢叶酸还原酶缺乏所致同型胱氨酸尿症的中枢和外周神经系统病理学
Pediatr Neurol. 1985 Nov-Dec;1(6):375-8. doi: 10.1016/0887-8994(85)90076-1.
6
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.由5,10-亚甲基四氢叶酸还原酶缺乏引起的同型胱氨酸尿症：一例对蛋氨酸、亚叶酸、维生素B6和维生素B12治疗有反应的婴儿病例。
J Pediatr. 1981 Feb;98(2):275-8. doi: 10.1016/s0022-3476(81)80660-9.
7
5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case.5,10-亚甲基四氢叶酸还原酶缺乏症。另一病例的临床和生化特征。
J Inherit Metab Dis. 1985;8(2):53-7. doi: 10.1007/BF01801662.
8
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.甜菜碱对亚甲基四氢叶酸还原酶缺乏动物模型的挽救作用
Biochem J. 2004 Sep 15;382(Pt 3):831-40. doi: 10.1042/BJ20040822.
9
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.甜菜碱治疗剂量滴定以优化 5,10-亚甲基四氢叶酸还原酶缺乏症婴儿的治疗。
Eur J Pediatr. 2010 Feb;169(2):241-3. doi: 10.1007/s00431-009-0997-x. Epub 2009 May 12.
10
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
J Child Neurol. 2000 Aug;15(8):539-43. doi: 10.1177/088307380001500808.

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.胱硫醚β合酶缺乏症与补充甜菜碱时蛋氨酸过量相关的脑水肿：4例新病例及证据综述
JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar.
2
Betaine in the Brain: Characterization of Betaine Uptake, its Influence on Other Osmolytes and its Potential Role in Neuroprotection from Osmotic Stress.脑内甜菜碱：甜菜碱摄取的特征描述、对其他渗透物的影响及其在渗透胁迫神经保护中的潜在作用。
Neurochem Res. 2017 Dec;42(12):3490-3503. doi: 10.1007/s11064-017-2397-3. Epub 2017 Sep 16.
3

本文引用的文献

1
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.
J Inherit Metab Dis. 1994;17(5):560-5. doi: 10.1007/BF00711591.
2
Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism.钴胺素和叶酸缺乏患者及相关先天性代谢缺陷患者的血清甜菜碱、N,N-二甲基甘氨酸和N-甲基甘氨酸水平
Metabolism. 1993 Nov;42(11):1448-60. doi: 10.1016/0026-0495(93)90198-w.
3
Human hepatic methionine biosynthesis. Purification and characterization of betaine:homocysteine S-methyltransferase.人类肝脏蛋氨酸生物合成。甜菜碱：同型半胱氨酸S-甲基转移酶的纯化与特性鉴定。
Homocysteine lowering interventions for peripheral arterial disease and bypass grafts.
降低同型半胱氨酸水平对周围动脉疾病和旁路移植术的干预措施。
Cochrane Database Syst Rev. 2013 Jul 19;2013(7):CD003285. doi: 10.1002/14651858.CD003285.pub2.
4
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.使用甜菜碱和叶酸治疗 Angelman 综合征的双盲临床试验。
Am J Med Genet A. 2010 Aug;152A(8):1994-2001. doi: 10.1002/ajmg.a.33509.
5
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.甜菜碱治疗剂量滴定以优化 5,10-亚甲基四氢叶酸还原酶缺乏症婴儿的治疗。
Eur J Pediatr. 2010 Feb;169(2):241-3. doi: 10.1007/s00431-009-0997-x. Epub 2009 May 12.
6
A study of the treatment of Rett syndrome with folate and betaine.一项关于用叶酸和甜菜碱治疗雷特综合征的研究。
J Child Neurol. 2009 May;24(5):551-6. doi: 10.1177/0883073808327827. Epub 2009 Feb 18.
7
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.健康受试者和同型胱氨酸尿症患者口服甜菜碱的药代动力学
Br J Clin Pharmacol. 2003 Jan;55(1):6-13. doi: 10.1046/j.1365-2125.2003.01717.x.
8
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.甜菜碱对同型半胱氨酸抑制的间接反应模型：优化高胱氨酸尿症中甜菜碱的给药方案。
Br J Clin Pharmacol. 2002 Aug;54(2):140-6. doi: 10.1046/j.1365-2125.2002.01620.x.
9
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.快速诊断与蛋氨酸给药：亚甲基四氢叶酸还原酶缺乏症患者良好预后的基础。
J Inherit Metab Dis. 1999 May;22(3):240-2. doi: 10.1023/a:1005509400481.
J Biol Chem. 1982 Dec 25;257(24):14944-8.