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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Inherit Metab Dis
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: 2020
الموضوعات:
Article
الوصول للمادة أونلاين: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
الوسوم: إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

مواد مشابهة