Affective disorder as the first manifestation of methylmalonic acidemia: a case report.
作者信息
Sheikhmoonesi Fatemeh, Shafaat Arefeh, Moarefian Shirin, Zaman Talieh
机构信息
Psychiatry and Behavioral Sciences Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
Iran J Pediatr. 2013 Apr;23(2):245-6.
Abstract
摘要
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本文引用的文献
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Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.甲基丙二酸血症：52例儿童的脑成像结果及文献综述
Pediatr Radiol. 2008 Oct;38(10):1054-61. doi: 10.1007/s00247-008-0940-8. Epub 2008 Jul 18.
2
Neuropathology of methylmalonic acidemia in a child.一名儿童甲基丙二酸血症的神经病理学
Pediatr Neurol. 2006 Feb;34(2):156-9. doi: 10.1016/j.pediatrneurol.2005.07.006.
3
VITAMIN B12 HYPOVITAMINOSIS IN MENTAL DISEASES.精神疾病中的维生素B12缺乏症
Acta Med Scand. 1965 Jun;177:689-99. doi: 10.1111/j.0954-6820.1965.tb01879.x.
4
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.甲基丙二酸血症中的急性锥体外系综合征：累及苍白球的“代谢性卒中”
J Pediatr. 1988 Dec;113(6):1022-7. doi: 10.1016/s0022-3476(88)80574-2.
5
Recent advances in the inherited methylmalonic acidemias.遗传性甲基丙二酸血症的最新进展
Acta Paediatr Scand. 1987 Sep;76(5):689-96. doi: 10.1111/j.1651-2227.1987.tb10551.x.
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