ProfileOfResearchers

TITLE: International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management Full Text
AUTHORS: Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques da Silva; Carlota Pascoal; Dulce Quelhas; Kimiyo M Raymond; Daisy Rymen; Malgorzata Seroczynska; Mercedes Serrano; Jolanta Sykut Cegielska; Christian Thiel; Frederic Tort; Mari Anne Vals; Paula Videira; Nicol Voermans; Peter Witters; Eva Morava; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE

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TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Full Text
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; Thatjana Gardeitchik; Matthijs Gert; Muriel Girad; Marisa Giros; Stephanie Gruenewald; Trinidad Hernandez Caselles; Tomas Honzik; Marlen Hutter; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques de Silva; Antonio F Martinez; Hossein Moravej; Katrin Ounap; Carlota Pascoal; Tiffany Pascreau; Marc Patterson; Dulce Quelhas; Kimiyo Raymond; Peymaneh Sarkhail; Manuel Schiff; Malgorzata Seroczynska; Mercedes Serrano; Nathalie Seta; Jolanta Sykut Cegielska; Christian Thiel; Federic Tort; Mari Anne Vals; Paula Videira; Peter Witters; Renate Zeevaert; Eva Morava; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1

INDEXED IN:

Scopus

WOS

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