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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-sugars synthesis and ensuing glycosylation reactio...

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Detalles Bibliográficos
Autores principales:	Morava, Eva, Schatz, Ulrich A., Torring, Pernille M., Abbott, Mary-Alice, Baumann, Matthias, Brasch-Andersen, Charlotte, Chevalier, Nathalie, Dunkhase-Heinl, Ulrike, Fleger, Martin, Haack, Tobias B., Nelson, Stephen, Potelle, Sven, Radenkovic, Silvia, Bommer, Guido T., Van Schaftingen, Emile, Veiga-da-Cunha, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206387/ https://www.ncbi.nlm.nih.gov/pubmed/33979636 http://dx.doi.org/10.1016/j.ajhg.2021.04.017

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