Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations

por Jaeken, Jaak
Publicado 2020

How to find and diagnose a CDG due to defective N-glycosylation

por Lefeber, Dirk J., Morava, Eva, Jaeken, Jaak
Publicado 2011

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

por Jaeken, Jaak, Lefeber, Dirk J., Matthijs, Gert
Publicado 2020

PMM2‐CDG and nephrotic syndrome: A case report

por Banderali, Giuseppe, Salvatici, Elisabetta, Rovelli, Valentina, Jaeken, Jaak
Publicado 2022

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years

por Van Hees, Ines, Jaeken, Jaak, Meersseman, Wouter, Casteels, Ingele
Publicado 2019

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

por Haijes, Hanneke A., Jaeken, Jaak, van Hasselt, Peter M.
Publicado 2020

Platelets and Defective N-Glycosylation

por Mammadova-Bach, Elmina, Jaeken, Jaak, Gudermann, Thomas, Braun, Attila
Publicado 2020

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

por Cassiman, David, Zeevaert, Renate, Holme, Elisabeth, Kvittingen, Eli-Anne, Jaeken, Jaak
Publicado 2009

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

por Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak
Publicado 2010

Congenital disorders of glycosylation: narration of a story through its patents

por Monticelli, Maria, D’Onofrio, Tania, Jaeken, Jaak, Morava, Eva, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Publicado 2023

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

por de Freitas, Cláudia, dos Reis, Vanessa, Silva, Susana, Videira, Paula A., Morava, Eva, Jaeken, Jaak
Publicado 2017

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)

por Altassan, Ruqaiah, Albert‐Brotons, Dimpna C., Alowain, Mohammad, Al‐Halees, Zohair, Jaeken, Jaak, Morava, Eva
Publicado 2022

Congenital disorders of glycosylation (CDG): state of the art in 2022

por Francisco, Rita, Brasil, Sandra, Poejo, Joana, Jaeken, Jaak, Pascoal, Carlota, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2023

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

por Francisco, Rita, Brasil, Sandra, Pascoal, Carlota, Jaeken, Jaak, Liddle, Merell, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2022

PIGO deficiency: palmoplantar keratoderma and novel mutations

por Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen
Publicado 2017

A Patient with Neonatal Cholestasis

por Claeys, Kristl G., Breysem, Luc, Legius, Eric, Brems, Hilde, Cassiman, David, Moisse, Matthieu, Vermeersch, Pieter, Levtchenko, Elena, Jaeken, Jaak
Publicado 2021

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

por Witters, Peter, Andersson, Hans, Jaeken, Jaak, Tseng, Laura, van Karnebeek, Clara D. M., Lefeber, Dirk J., Cassiman, David, Morava, Eva
Publicado 2021

SLC35A2-CDG: Novel variant and review

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

COG6‐CDG: Novel variants and novel malformation

por Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita
Publicado 2022

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

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