International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem diseas...

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Publicado en:J Inherit Metab Dis
Main Authors: Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari-Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7855268/
https://ncbi.nlm.nih.gov/pubmed/32681750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12286
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