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Metabolic stroke in methylmalonic acidemia.

作者信息

Thompson G N, Christodoulou J, Danks D M

出版信息

J Pediatr. 1989 Sep;115(3):499-500. doi: 10.1016/s0022-3476(89)80867-4.

DOI:10.1016/s0022-3476(89)80867-4
PMID:2597263
Abstract
摘要

相似文献

1
Metabolic stroke in methylmalonic acidemia.甲基丙二酸血症中的代谢性中风。
J Pediatr. 1989 Sep;115(3):499-500. doi: 10.1016/s0022-3476(89)80867-4.
2
[Methylmalonic acidemia: classification, diagnosis and therapy].[甲基丙二酸血症：分类、诊断与治疗]
Klin Padiatr. 1983 Nov-Dec;195(6):388-93. doi: 10.1055/s-2008-1034405.
3
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.人类甲基丙二酸血症cbl B型的缺陷：培养的成纤维细胞提取物中钴胺素（I）腺苷转移酶活性缺乏。
Biochem Biophys Res Commun. 1981 Jan 15;98(1):283-9. doi: 10.1016/0006-291x(81)91900-8.
4
[Methylmalonic acidemia. Diagnosis and treatment in various patients].[甲基丙二酸血症。不同患者的诊断与治疗]
Ned Tijdschr Geneeskd. 1978 May 20;122(20):707-12.
5
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.甲基丙二酸血症产前诊断的改进：羊水和母体尿液中甲基丙二酸的质量碎片分析法
Eur J Pediatr. 1981 Nov;137(3):261-6. doi: 10.1007/BF00443254.
6
Cutaneous manifestations of methylmalonic acidemia.甲基丙二酸血症的皮肤表现
Arch Dermatol Res. 1990;282(4):272-3. doi: 10.1007/BF00371650.
7
Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.甲基丙二酸血症中甲基丙二酰辅酶A羧基变位酶活性的研究。II. 与腺苷钴胺素的体外结合动力学
Biochem Med. 1976 Jun;15(3):241-5. doi: 10.1016/0006-2944(76)90054-5.
8
Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.代谢性疾病中的底物处置：甲基丙二酸血症患儿体内丙酸氧化速率与尿代谢产物排泄率的比较
J Pediatr. 1989 Nov;115(5 Pt 1):735-9. doi: 10.1016/s0022-3476(89)80651-1.
9
[Organic acidemias: current diagnostic practical possibilities].
Pediatria (Napoli). 1983 Jan-Mar;91(1):3-13.
10
Methylmalonic acidemia and vitamin B12 dependency.甲基丙二酸血症与维生素B12依赖症
Acta Paediatr Scand. 1970 Jan;59(1):88-9. doi: 10.1111/j.1651-2227.1970.tb15520.x.

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Methylmalonic acidemia: Neurodevelopment and neuroimaging.甲基丙二酸血症：神经发育与神经影像学
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Follow-up study of neuropsychological scores of infant patients with cobalamin C defects and influencing factors of cerebral magnetic resonance imaging characteristics.钴胺素C缺陷婴儿患者神经心理评分的随访研究及脑磁共振成像特征的影响因素
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Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia.
中枢神经系统靶向腺相关病毒基因疗法治疗甲基丙二酸血症
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Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings.儿童甲基丙二酸血症的脑 MRI 特征：神经心理学评分与 MRI 结果的关系。
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Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.对β-酮硫解酶（线粒体乙酰乙酰辅酶 A 硫解酶，T2）缺乏症的认识的最新进展。
J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5.
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Methylmalonic and propionic acidemias: clinical management update.甲基丙二酸血症和丙酸血症：临床管理更新
Curr Opin Pediatr. 2016 Dec;28(6):682-693. doi: 10.1097/MOP.0000000000000422.
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Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia.超越基底神经节：甲基丙二酸血症的磁共振成像变化谱
J Inherit Metab Dis. 2008 Jun;31(3):368-78. doi: 10.1007/s10545-008-0801-5. Epub 2008 May 9.
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Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.
Eur J Pediatr. 2003 Apr;162(4):259-63. doi: 10.1007/s00431-002-1135-1. Epub 2003 Feb 7.
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Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study.双侧苍白球受累的甲基丙二酸血症：一项神经病理学研究。
J Inherit Metab Dis. 1998 Aug;21(6):639-44. doi: 10.1023/a:1005428432730.
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Neurological outcome of methylmalonic acidaemia.甲基丙二酸血症的神经学转归
Arch Dis Child. 1998 Jun;78(6):508-12. doi: 10.1136/adc.78.6.508.