Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons.
作者信息
Gitzelmann R, Haigis E
出版信息
J Inherit Metab Dis. 1978;1(1):41. doi: 10.1007/BF01805715.
PMID:117236
Abstract
摘要
相似文献
1
Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons.在由表异构酶缺陷患者培养的细胞中出现活性UDP-半乳糖4'-表异构酶。
J Inherit Metab Dis. 1978;1(1):41. doi: 10.1007/BF01805715.
2
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.由全身性尿苷二磷酸半乳糖-4-表异构酶缺乏引起的半乳糖血症。
J Pediatr. 1986 Dec;109(6):1074-5. doi: 10.1016/s0022-3476(86)80305-5.
3
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.培养的人白细胞中UDP-半乳糖4-表异构酶缺乏症的逆转
Proc Natl Acad Sci U S A. 1975 Dec;72(12):5026-30. doi: 10.1073/pnas.72.12.5026.
4
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.尿苷二磷酸半乳糖4'-表异构酶缺乏症。IV. 三个家族中八例病例报告。
Helv Paediatr Acta. 1977 Apr;31(6):441-52.
5
Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia.表异构酶缺乏型半乳糖血症中低密度脂蛋白受体的结构与功能
N Engl J Med. 1986 May 8;314(19):1257-8.
6
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program.在半乳糖血症筛查项目中检测UDP-半乳糖-4-表异构酶缺乏症
Clin Chim Acta. 1981 Oct 8;116(1):101-5. doi: 10.1016/0009-8981(81)90173-x.
7
Prenatal determination of uridine diphosphate galactose-4-epimerase activity.尿苷二磷酸半乳糖-4-表异构酶活性的产前测定
Prenat Diagn. 1983 Jan;3(1):57-9. doi: 10.1002/pd.1970030112.
8
Uridine diphosphate galactose 4-epimerase deficiency.尿苷二磷酸半乳糖4-表异构酶缺乏症
Eur J Pediatr. 1981 Feb;135(3):303-4. doi: 10.1007/BF00442108.
9
Uridine diphosphate galactose 4-epimerase deficiency.尿苷二磷酸半乳糖4-表异构酶缺乏症
Am J Dis Child. 1980 Oct;134(10):995. doi: 10.1001/archpedi.1980.02130220071025.
10
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.由全身性尿苷二磷酸半乳糖-4-表异构酶缺乏引起的半乳糖血症。
J Pediatr. 1983 Dec;103(6):927-30. doi: 10.1016/s0022-3476(83)80719-7.
Zotero 插件