3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
作者信息
Al-Odaib Ali, Rashed Mohamed, Page Theodore, Nyhan William, Ozand Pinar T
机构信息
King Faisal Specialist Hospital, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.
出版信息
Saudi Med J. 2006 May;27(5):732-3.
PMID:16680273
Abstract
摘要
相似文献
1
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
Saudi Med J. 2006 May;27(5):732-3.
2
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.以癫痫持续状态反复发作为主要症状的3-甲基巴豆酰辅酶A羧化酶缺乏症
Brain Dev. 2008 Mar;30(3):218-20. doi: 10.1016/j.braindev.2007.08.005. Epub 2007 Sep 14.
3
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.3-甲基巴豆酰辅酶A羧化酶缺乏症与严重多发性硬化症
Pediatr Neurol. 2007 Feb;36(2):132-4. doi: 10.1016/j.pediatrneurol.2006.09.007.
4
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency.
Anesth Analg. 2008 Aug;107(2):648-50. doi: 10.1213/ane.0b013e3181770fcc.
5
[3-Methylcrotonyl-CoA carboxylase deficiency].
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):284-7.
6
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.孤立性3-甲基巴豆酰辅酶A羧化酶缺乏症中的严重低血糖症；一种罕见的严重临床表现。
J Inherit Metab Dis. 2005;28(6):1136-8. doi: 10.1007/s10545-005-4545-1.
7
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.3-甲基巴豆酰辅酶A羧化酶缺乏症：通过新生儿筛查在一名不依从的儿童中检测到代谢失代偿。
Pediatrics. 2006 Dec;118(6):2555-6. doi: 10.1542/peds.2006-1659.
8
9
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.一名患有心肌病的婴儿、其发育迟缓的哥哥以及无症状的父亲患有3-甲基巴豆酰辅酶A羧化酶缺乏症。
Eur J Pediatr. 2000 Dec;159(12):901-4. doi: 10.1007/pl00008366.
10
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.近亲结婚导致的3-甲基巴豆酰辅酶A羧化酶缺乏症：早发性坏死性脑病，预后致死。
J Inherit Metab Dis. 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8.
Zotero 插件