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Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.

作者信息

Steen C, Rosenblatt D S, Scheying H, Braeuer H C, Kohlschütter A

机构信息

University Children's Hospital, Hamburg, Germany.

出版信息

J Inherit Metab Dis. 1997 Sep;20(5):705-6. doi: 10.1023/a:1005382627986.

DOI:10.1023/a:1005382627986
PMID:9323567
Abstract
摘要

相似文献

1
Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
J Inherit Metab Dis. 1997 Sep;20(5):705-6. doi: 10.1023/a:1005382627986.
2
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.功能性蛋氨酸合酶缺乏症（cblE和cblG）：临床和生化异质性。
Am J Med Genet. 1989 Nov;34(3):427-34. doi: 10.1002/ajmg.1320340320.
3
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.同型胱氨酸尿症和对维生素B₁₂治疗有反应的巨幼细胞贫血。一种由于钴胺素代谢缺陷导致的先天性代谢错误。
N Engl J Med. 1984 Mar 15;310(11):686-90. doi: 10.1056/NEJM198403153101104.
4
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.因cblG障碍导致的功能性蛋氨酸合酶缺乏症：两例患者报告及文献综述
Am J Med Genet. 1997 Sep 5;71(4):384-90. doi: 10.1002/(sici)1096-8628(19970905)71:4<384::aid-ajmg3>3.0.co;2-u.
5
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).一名患有功能性甲硫氨酸合酶缺乏症（cblE病）的女性患者出现叶酸反应性高胱氨酸尿症和巨幼细胞贫血。
J Inherit Metab Dis. 1997 Nov;20(6):731-41. doi: 10.1023/a:1005372730310.
6
Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity.维生素B12反应性新生儿巨幼细胞贫血和同型胱氨酸尿症伴甲硫氨酸合酶活性降低。
Blood. 1987 Apr;69(4):1128-33.
7
Methionine synthase deficiency without megaloblastic anaemia.
Eur J Pediatr. 1997 Dec;156(12):925-30. doi: 10.1007/s004310050744.
8
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.由于甲硫氨酸生物合成出现新缺陷，导致巨幼细胞贫血和高胱氨酸尿症患者的成纤维细胞中维生素B12代谢发生改变。
J Clin Invest. 1984 Dec;74(6):2149-56. doi: 10.1172/JCI111641.
9
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.因甲硫氨酸合成酶还原酶缺乏导致的同型胱氨酸尿症CblE型：两个家系的临床与分子研究及产前诊断
J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308.
10
Methionine auxotrophy in inborn errors of cobalamin metabolism.钴胺素代谢先天性缺陷中的甲硫氨酸营养缺陷
Clin Invest Med. 1992 Aug;15(4):395-400.

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.钴胺素相关再甲基化障碍（cblC、cblD、cblE、cblF、cblG、cblJ和亚甲基四氢叶酸还原酶缺乏症）的诊断与管理指南
J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.
2
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.24例cblE或cblG再甲基化缺陷患者的临床起病情况、病程、治疗反应及转归，并辅以遗传学和体外酶学研究数据
J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20.
3
Sulfur as a signaling nutrient through hydrogen sulfide.
硫作为通过硫化氢发挥作用的信号营养物质。
Annu Rev Nutr. 2014;34:171-205. doi: 10.1146/annurev-nutr-071813-105654.
4
Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.与钴胺素 E 代谢先天性错误相关的非典型肾小球病变。
Pediatr Nephrol. 2013 Jul;28(7):1135-9. doi: 10.1007/s00467-013-2443-6. Epub 2013 Mar 19.
5
Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase.甲硫氨酸合酶还原酶缺陷小鼠中甲硫氨酸和叶酸代谢的代谢紊乱
Mol Genet Metab. 2007 May;91(1):85-97. doi: 10.1016/j.ymgme.2007.02.001. Epub 2007 Mar 21.
6
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.同型胱氨酸尿症的CblE型：两名MTRR基因新突变纯合子患者的轻度临床表型
J Inherit Metab Dis. 2003;26(4):361-9. doi: 10.1023/a:1025159103257.