A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy-Reference-Cited by-同舟云学术

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A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy

Published:2023-01-04 Issue:3 Volume:29 Page:971-973
ISSN:1755-5930
Container-title:CNS Neuroscience & Therapeutics
language:en
Short-container-title:CNS Neurosci Ther

Author:

Wang Guan‐Qing¹^ORCID,Zhao Ze‐Yu²³,Li Yan‐Bin²³

Affiliation:

1. Department of Neurology, Shandong Provincial Qianfoshan Hospital, School of Clinical Medicine Weifang Medical University Weifang China

2. Department of Neurology The First Affiliated Hospital of Shandong First Medical University Jinan China

3. Shandong Institute of Neuroimmunology Jinan China

Publisher

Wiley

Subject

Pharmacology (medical),Physiology (medical),Psychiatry and Mental health,Pharmacology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cns.14072

Reference8 articles.

1. Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

2. Child Neurology: Ethylmalonic encephalopathy

3. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

4. Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

5. Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy

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