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Ethylmalonic encephalopathy masquerading as meningococcemia

Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in ETHE1 (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular damage. The microvascular changes result in a pattern of rela...

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Detalles Bibliográficos
Autores principales:	Horton, Ari, Hong, Kai Mun, Pandithan, Dinusha, Allen, Meredith, Killick, Caroline, Goergen, Stacy, Springer, Amanda, Phelan, Dean, Marty, Melanie, Halligan, Rebecca, Lee, Joy, Pitt, James, Chong, Belinda, Christodoulou, John, Lunke, Sebastian, Stark, Zornitza, Fahey, Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958906/ https://www.ncbi.nlm.nih.gov/pubmed/35165146 http://dx.doi.org/10.1101/mcs.a006193

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