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...
Guardat en:
| Publicat a: | J Clin Invest |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1994
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| Matèries: | |
| Accés en línia: | 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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