Work

Ataxia As New Presentation of Likely Combined Oxidative Phosphorylation Deficiency 54 ( COXPD54 ): A Case Report and Literature Review

Year: 2025

Type: article

Abstract: Ethical Compliance Statement: This study was conducted under an IRB-approved protocol at Emory University. No identifiable patient information is included in this work. Informed patient consent was not necessary for this study. We confirm that we have read the Journal's position on ethical publication and affirm that this work is consistent with those guidelines. Funding Sources and Conflict of Interest: No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this manuscript. Financial Disclosures for the Previous 12 Months: ABK has no financial disclosures. JV has no financial disclosures. RT receives royalties from Uptodate. The data that support the findings of this study are available from the corresponding author upon reasonable request.

Source: Movement Disorders Clinical Practice

DOI: 10.1002/mdc3.70399

Authors: Abdalmalik Bin Khunayfir, Jaime Vengoechea, Richa Tripathi

Institution: Emory University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4414975462

FWCI:

Cites: 8

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