Kimiyo Raymond
AuthID: R-00G-Y2B
1
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; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
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; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
2
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
3
TITLE: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION Full Text
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7