Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial encephalopathy. Motor and cognitive development was severely delayed and brain MRI showed signal abnormalities in the putamen and caudate nuclei. Metabolic abnormalities in...

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Publicado en:JIMD Rep
Main Authors: Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5953898/
https://ncbi.nlm.nih.gov/pubmed/28755360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_48
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