[Clinical variants and basic principles of the diagnosis of galactosemia (review of the literature)].
作者信息
Ermakova L I
出版信息
Vopr Okhr Materin Det. 1975 Aug;20(8):58-62.
PMID:241152
Abstract
摘要
相似文献
1
[Clinical variants and basic principles of the diagnosis of galactosemia (review of the literature)].
Vopr Okhr Materin Det. 1975 Aug;20(8):58-62.
2
Current controversies about galactosemia.
Clin Biochem. 1993 Apr;26(2):69-74. doi: 10.1016/0009-9120(93)90031-z.
3
[The diagnosis of galactosemia: screening or clinical diagnosis?].
Ned Tijdschr Geneeskd. 1980 Jul 26;124(30):1250-6.
4
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.马斯特里赫特研讨会介绍：半乳糖血症的历史教训与新方向
J Inherit Metab Dis. 2011 Apr;34(2):249-55. doi: 10.1007/s10545-010-9232-1. Epub 2010 Nov 30.
5
Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site.与UDP-葡萄糖或UDP-半乳糖复合的1-磷酸半乳糖尿苷酰转移酶H166G定点突变体的结构分析：核苷酸糖结合位点的详细描述
Biochemistry. 1997 Feb 11;36(6):1212-22. doi: 10.1021/bi9626517.
6
Prenatal diagnosis of galactosemia.
Biomedicine. 1978 Jun;29(4):136-8.
7
Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.1-磷酸半乳糖尿苷转移酶（GALT）缺乏型半乳糖血症的产前诊断
Prenat Diagn. 2001 Apr;21(4):302-3. doi: 10.1002/pd.46.
8
Structure and function of enzymes of the Leloir pathway for galactose metabolism.半乳糖代谢的Leloir途径中酶的结构与功能
J Biol Chem. 2003 Nov 7;278(45):43885-8. doi: 10.1074/jbc.R300025200. Epub 2003 Aug 15.
9
[Galactose-1-phosphate uridyltransferase deficiency].
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):15-21.
10
Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography.采用高效液相色谱法直接非放射性测定半乳糖-1-磷酸：尿苷酰转移酶活性。
Clin Chim Acta. 2010 Jul 4;411(13-14):980-3. doi: 10.1016/j.cca.2010.03.032. Epub 2010 Mar 30.
Zotero 插件