Platelets and Defective N-Glycosylation

by Elmina Mammadova-Bach, Jaak Jaeken, Thomas Gudermann, Attila Braun
Published 2020-08-01

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation

by Cláudia de Freitas, Vanessa dos Reis, Susana Silva, Paula A. Videira, Eva Morava, Jaak Jaeken
Published 2017-09-01

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

by Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava
Published 2021-03-01

SLC35A2-CDG: Novel variant and review

by Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Published 2021-03-01

PIGO deficiency: palmoplantar keratoderma and novel mutations

by Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson
Published 2017-05-01

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

by Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles
Published 2016-01-01

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

by Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles
Published 2016-01-01

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

by Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira
Published 2018-11-01

CDG Therapies: From Bench to Bedside

by Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A. Videira, Eva Morava, Jaak Jaeken, Vanessa dos Reis Ferreira
Published 2018-04-01

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
Published 2020-01-01

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

by Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
Published 2019-05-01

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

by Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Sandra Brasil, Fernando M. Pimentel-Santos, Ruqaiah Altassan, Jaak Jaeken, Ana Rita Grosso, Vanessa dos Reis Ferreira, Paula A. Videira
Published 2020-07-01

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

by Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revencu, Xavier Stephénne, Cristina De Castro, Gert Matthijs, Rita Barone, Jaak Jaeken, Domenico Garozzo
Published 2021-04-01

SLC37A4‐CDG: Second patient

by Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Published 2021-03-01

MAN1B1 deficiency: an unexpected CDG-II.

by Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs
Published 2013-01-01