Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report

Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and re...

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Detalles Bibliográficos
Autores principales: Chen, Xiaohong, Han, Lin, Yao, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181787/
https://www.ncbi.nlm.nih.gov/pubmed/32362910
http://dx.doi.org/10.3389/fgene.2020.00341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181787/
https://www.ncbi.nlm.nih.gov/pubmed/32362910
http://dx.doi.org/10.3389/fgene.2020.00341

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