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Case Reports
. 2023 Mar;29(3):971-973.
doi: 10.1111/cns.14072. Epub 2023 Jan 4.

A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy

Guan-Qing Wang  1 , Ze-Yu Zhao  2   3 , Yan-Bin Li  2   3
Affiliations
Case Reports

A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy

Guan-Qing Wang et al. CNS Neurosci Ther. 2023 Mar.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
MRI and genetic observations in a patient with ethylmalonic encephalopathy. (A) T2‐weighted, T2 fluid‐attenuated inversion recovery, diffusion‐weighted MR, and associated apparent diffusion coefficient MR of axial images of brain MRI show hyperintensities in the bilateral putamen (red arrows). (B) Sequence electropherogram of c.488G>A and c.475G>C (gray rectangles) variations in the patient from the father and mother, respectively.
See this image and copyright information in PMC

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References

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