Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia. Elevation of lactate in the cerebrospinal fluid and high fumarate excretion in the urin...
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| 出版年: | J Clin Invest |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Clinical Investigation
1994
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294471/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8200987/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117261 |
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