Romain Peanne
AuthID: R-00G-R9B
1
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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Mutations in ATP6AP2 are associated to Congenital Disorders of Glycosylation with autophagic defects
AUTHORS: Romain Peanne; Magda Cannata Serio; Maria A Rujano; Ganna Panasyuk; Janine Reunert; Dulce Quelhas; Michael Schwake; Sandrine Duvet; Francois Foulquier; Gert Matthijs; Thorsten Marquardt; Matias Simons;
PUBLISHED: 2017, SOURCE: Annual Meeting of the Society-for-Glycobiology in GLYCOBIOLOGY, VOLUME: 27, ISSUE: 12
AUTHORS: Romain Peanne; Magda Cannata Serio; Maria A Rujano; Ganna Panasyuk; Janine Reunert; Dulce Quelhas; Michael Schwake; Sandrine Duvet; Francois Foulquier; Gert Matthijs; Thorsten Marquardt; Matias Simons;
PUBLISHED: 2017, SOURCE: Annual Meeting of the Society-for-Glycobiology in GLYCOBIOLOGY, VOLUME: 27, ISSUE: 12
INDEXED IN: WOS
WOS3
TITLE: MAN1B1 Deficiency: An Unexpected CDG-II Full Text
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
