International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)

P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National...

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Bibliographic Details
Main Author: Altassan, Ruqaiah (author)
Other Authors: Radenkovic, Silvia (author), Edmondson, Andrew C. (author), Barone, Rita (author), Brasil, Sandra (author), Cechova, Anna (author), Coman, David (author), Donoghue, Sarah (author), Falkenstein, Kristina (author), Ferreira, Vanessa (author), Fiumara, Agata (author), Francisco, Rita (author), Freeze, Hudson (author), Grunewald, Stephanie (author), Honzik, Tomas (author), Jaeken, Jaak (author), Krasnewich, Donna (author), Lam, Christina (author), Lee, Joy (author), Lefeber, Dirk (author), Marques-da-Silva, Dorinda (author), Pascoal, Carlota (author), Quelhas, Dulce (author), Raymond, Kimiyo M. (author), Rymen, Daisy (author), Seroczynska, Malgorzata (author), Serrano, Mercedes (author), Sykut-Cegielska, Jolanta (author), Thiel, Christian (author), Tort, Frederic (author), Vals, Mari Anne (author), Videira, Paula (author), Voermans, Nicol (author), Witters, Peter (author), Morava, Eva (author)
Format: review
Language:eng
Published: 2021
Subjects:
congenital disorder of glycosylation
d-galactose
management guidelines
PGM1-CDG
phosphoglucomutase 1 deficiency
Genetics
Genetics(clinical)
Online Access:http://hdl.handle.net/10362/114760
Country:Portugal
Oai:oai:run.unl.pt:10362/114760
Description
Summary:P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (E. M., K. R., C. F., H. F., C. L., and A. E.)

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