Prenatal studies in a family with transcobalamin II deficiency.
作者信息
Mayes J S, Say B, Marcus D L
出版信息
Am J Hum Genet. 1987 Oct;41(4):686-7.
Abstract
摘要
相似文献
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Prenatal studies in a family with transcobalamin II deficiency.对一个患有转钴胺素II缺乏症的家庭进行的产前研究。
Am J Hum Genet. 1987 Oct;41(4):686-7.
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Immunodeficiency due to transcobalamin II deficiency.
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引用本文的文献
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Update on transcobalamin deficiency: clinical presentation, treatment and outcome.转钴胺素缺乏症的最新情况：临床表现、治疗及预后
J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5.
本文引用的文献
1
Vitamin B12--binding proteins.
Physiol Rev. 1980 Jul;60(3):918-60. doi: 10.1152/physrev.1980.60.3.918.
2
Congenital disorders of vitamin B12 transport and their contributions to concepts. II.维生素B12转运的先天性疾病及其概念贡献。II.
Yale J Biol Med. 1981 Nov-Dec;54(6):485-95.
3
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings.两名兄弟姐妹因遗传性转钴胺素II缺乏导致新生儿巨幼细胞贫血。
N Engl J Med. 1971 Nov 18;285(21):1163-70. doi: 10.1056/NEJM197111182852103.
4
Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells.
Biochim Biophys Acta. 1985 Jun 30;845(3):421-7. doi: 10.1016/0167-4889(85)90207-1.
5
Expression of transcobalamin II by amniocytes.
Prenat Diagn. 1987;7(1):35-9. doi: 10.1002/pd.1970070107.
6
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.维生素B12反应性甲基丙二酸血症患者的产前治疗
N Engl J Med. 1975 Aug 14;293(7):313-7. doi: 10.1056/NEJM197508142930701.
7
A simple method for the separate measurement of transcobalamins I, II, and III: normal ranges in serum and plasma in men and women.
J Lab Clin Med. 1977 May;89(5):1145-52.
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