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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Detalhes bibliográficos
Autor principal: Altassan, Ruqaiah (author)
Outros Autores: 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)
Formato: review
Idioma:eng
Publicado em: 2021
Assuntos:
congenital disorder of glycosylation
d-galactose
management guidelines
PGM1-CDG
phosphoglucomutase 1 deficiency
Genetics
Genetics(clinical)
Texto completo:http://hdl.handle.net/10362/114760
País:Portugal
Oai:oai:run.unl.pt:10362/114760

Texto Completo

http://hdl.handle.net/10362/114760

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