Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria.
作者信息
Reis-Carneiro Diogo, Robalo Conceição, Laço Mário, Vidailhet Marie, Diogo Luísa
机构信息
Neurology Department Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.
Neuropediatrics Department Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.
出版信息
Mov Disord Clin Pract. 2022 Apr 27;9(5):707-709. doi: 10.1002/mdc3.13450. eCollection 2022 Jul.
Abstract
摘要
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本文引用的文献
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Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.延胡索酸酶缺乏症：一例新的致病性突变病例及文献复习。
J Child Neurol. 2021 Mar;36(4):310-323. doi: 10.1177/0883073820962931. Epub 2020 Oct 14.
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Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.富马酸水合酶突变与皮肤平滑肌瘤、子宫平滑肌瘤及肾癌易感性
Br J Dermatol. 2005 Jul;153(1):11-7. doi: 10.1111/j.1365-2133.2005.06678.x.
3
Fumaric aciduria: clinical and imaging features.富马酸尿症：临床及影像学特征
Ann Neurol. 2000 May;47(5):583-8.
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Fumarate hydratase deficiency.
J Inherit Metab Dis. 1998 Jun;21(4):435-6. doi: 10.1023/a:1005379330187.
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Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.两名患有进行性脑病和富马酸酶缺乏症的兄弟姐妹中富马酸酶基因的突变。
J Clin Invest. 1994 Jun;93(6):2514-8. doi: 10.1172/JCI117261.
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Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.延胡索酸酶缺乏症：线粒体脑肌病的一个新病因。
N Engl J Med. 1986 Aug 21;315(8):469-75. doi: 10.1056/NEJM198608213150801.
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