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Altered high-energy phosphate and membrane metabolism in Pelizaeus–Merzbacher disease using phosphorus magnetic resonance spectroscopy

Pelizaeus–Merzbacher disease is an X-linked recessive leucodystrophy of the central nervous system caused by mutations affecting the major myelin protein, proteolipid protein 1. The extent of the altered in vivo neurochemistry of protein, proteolipid protein 1 duplications, the most common form of P...

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Detalles Bibliográficos
Autores principales:	Laukka, Jeremy J, Kain, Kevin M, Rathnam, Anirudha S, Sohi, Jasloveleen, Khatib, Dalal, Kamholz, John, Stanley, Jeffrey A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396944/ https://www.ncbi.nlm.nih.gov/pubmed/36003325 http://dx.doi.org/10.1093/braincomms/fcac202

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