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Importance of acrocyanosis in delayed walking
We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia. Molecular analysis revealed a homozygous c.3G>T mutation in the ETHE1 gene. She did not have typical findings of the disease including recurr...
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| Udgivet i: | J Pediatr Neurosci |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Medknow Publications & Media Pvt Ltd
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4395958/ https://ncbi.nlm.nih.gov/pubmed/25878756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.154368 |
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