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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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Detalles Bibliográficos
Autores principales: Yiş, Uluç, Polat, İpek, Karakaya, Pakize, Ayanoğlu, Müge, Hiz, Ayşe Semra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395958/
https://www.ncbi.nlm.nih.gov/pubmed/25878756
http://dx.doi.org/10.4103/1817-1745.154368