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ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review

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Autori principali: Zita Hubler, Kaleigh Filisa Roberts, Nima Sharifai, Julia Sim, Sophia A. Hung, Grace E. Robvais, Alan Pestronk, Robert E. Schmidt, Sonika Dahiya, Robert C. Bucelli
Natura: Artigo
Lingua:Inglês
Pubblicazione: University of Münster / Open Journals System 2025-10-01
Serie:Free Neuropathology
Soggetti:
Mitchell Syndrome
ACOX1
Pseudo-neonatal adrenoleukodystrophy
Case report
Accesso online:https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/8894
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