Mutation analysis in metabolic (and other genetic) disease: how soon, how useful.
作者信息
Scriver C R
机构信息
McGill University Health Centre, Montreal Children's Hospital, Quebec, Canada.
出版信息
Eur J Pediatr. 2000 Dec;159 Suppl 3:S243-5. doi: 10.1007/pl00014412.
PMID:11216909
Abstract
摘要
相似文献
1
Mutation analysis in metabolic (and other genetic) disease: how soon, how useful.代谢性（及其他遗传性）疾病的突变分析：多快进行，有多大用处。
Eur J Pediatr. 2000 Dec;159 Suppl 3:S243-5. doi: 10.1007/pl00014412.
2
Role of mutation analysis for the diagnosis of inborn errors of metabolism.突变分析在先天性代谢缺陷诊断中的作用。
Clin Biochem. 2011 May;44(7):473. doi: 10.1016/j.clinbiochem.2011.03.014.
3
[Gene therapy for the treatment of inborn errors of metabolism].用于治疗先天性代谢缺陷的基因疗法
Med Clin (Barc). 2014 Jun 16;142(12):549-53. doi: 10.1016/j.medcli.2013.05.030. Epub 2013 Aug 7.
4
Genome editing for inborn errors of metabolism: advancing towards the clinic.用于治疗先天性代谢缺陷的基因组编辑：向临床应用迈进。
BMC Med. 2017 Feb 27;15(1):43. doi: 10.1186/s12916-017-0798-4.
5
[Genetics of metabolic diseases. Including cystic fibrosis].
An Esp Pediatr. 1990 Nov;33 Suppl 42:123-31.
6
New Gene-Editing Tool Slowly Advances Into the Clinic.新型基因编辑工具正缓慢步入临床应用。
J Natl Cancer Inst. 2017 Oct 1;109(10). doi: 10.1093/jnci/djx220.
7
[Inborn errors of metabolism].
Nihon Rinsho. 2010 Aug;68 Suppl 8:434-7.
8
Molecular diagnosis of inborn errors of metabolism.
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:121-3.
9
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.十名患有甲基丙二酸单酰辅酶A变位酶缺乏症的意大利患者的突变谱
J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x.
10
[Inborn errors of metabolism].[先天性代谢缺陷]
Nihon Rinsho. 2005 Dec;63 Suppl 12:269-72.
引用本文的文献
1
Substrate regulation of serotonin and dopamine synthesis in Drosophila.果蝇中血清素和多巴胺合成的底物调节
Invert Neurosci. 2004 Oct;5(2):85-96. doi: 10.1007/s10158-004-0031-y. Epub 2004 Oct 6.
Zotero 插件