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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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Bourgeron, T, Chretien, D, Poggi-Bach, J, Doonan, S, Rabier, D, Letouzé, P, Munnich, A, Rötig, A, Landrieu, P, Rustin, P
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1994
Fag:	Research Article
Online adgang:	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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