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...
Sábháilte in:
| Príomhchruthaitheoirí: | , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Frontiers Media S.A.
2020-04-01
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| Sraith: | Frontiers in Genetics |
| Ábhair: | |
| Rochtain ar líne: | https://www.frontiersin.org/article/10.3389/fgene.2020.00341/full |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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