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Journal article

Mutations responsible for 3-phosphoserine phosphatase deficiency

Veiga da Cunha, Maria[UCL] Collet, Jean-François[UCL] Prieur, Benoit[UCL] Jaeken, Jaak Peeraer, Yves Rabbijns, Anja Van Schaftingen, Emile[UCL] (2004) European Journal of Human Genetics — Vol. 12, no. 2, p. 163-166 (2004)

BookChapter

Defects of N-Glycan Synthesis

Jaeken, Jaak Matthijs, Gert Carchon, Hubert Van Schaftingen, Emile[UCL] (2001) The metabolic and molecular bases of inherited disease — [ISBN : 0-07-913035-6]

BookChapter

Adenylosuccinate lyase deficiency

Van den Berghe, Georges[UCL] Jaeken, Jaak (2001) The metabolic and molecular bases of inherited disease — [ISBN : 0-07-913035-6]

Journal article

Propeptide glycosylation and galectin‐3 binding decrease proteolytic activation of human proMMP‐9/progelatinase B

Boon, Lise Ugarte‐Berzal, Estefania Martens, Erik Vandooren, Jennifer Rybakin, Vasily Colau, Didier Gordon‐Alonso, Monica[UCL] van der Bruggen, Pierre[UCL] Stöcker, Walter Becker‐Pauly, Christoph Witters, Peter Morava, Eva Jaeken, Jaak Proost, Paul Opdenakker, Ghislain (2018) The FEBS Journal — Vol. 286, no. 5, p. 930-945 (2018)

BookChapter

Adenylosuccinase (adelynosuccinate lyase)

Van Den Berghe, Georges[UCL] Jaeken, Jaak (2002) Wiley encyclopedia of molecular medicine — [ISBN : 0-471-37494-6]

Journal article

SLC37A4-CDG: Second patient.

Wilson, Matthew P Quelhas, Dulce Leão-Teles, Elisa Sturiale, Luisa Rymen, Daisy Keldermans, Liesbeth Race, Valérie Souche, Erika Rodrigues, Esmeralda Campos, Teresa Van Schaftingen, Emile[UCL] Foulquier, François Garozzo, Domenico Matthijs, Gert Jaeken, Jaak (2021) JIMD reports — Vol. 58, no.1, p. 122-128 (2021)

Journal article

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

Sturiale, Luisa Nassogne, Marie-Cécile[UCL] Palmigiano, Angelo Messina, Angela Speciale, Immacolata Artuso, Rosangela Bertino, Gaetano Revencu, Nicole[UCL] Stéphenne, Xavier[UCL] De Castro, Cristina Matthijs, Gert Barone, Rita Jaeken, Jaak Garozzo, Domenico (2021) iScience — Vol. 24, no. 4, p. 102323 [1-22] (2021)

Journal article

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak Goyens, Philippe (2012) JIMD reports — Vol. 4, p. 103-108 (2012)

Journal article

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

Pirard, Michèle[UCL] Matthijs, Gert Heykants, Leen Schollen, Els Grünewald, Stephanie Jaeken, Jaak Van Schaftingen, Emile[UCL] (1999) FEBS letters — Vol. 452, no. 3, p. 319-22 (1999)

Speech

Deficiency of subunit 6 of the conserved oligomeric golgi complex (COG6-CDG): second patient, different phenotype

Goyens, Philippe Huybrechts, Sophie De Laet, Corinne Bontems, Patrick Rooze, Shancy Souayah, Hicham Sznajer, Yves[UCL] Sturiale, Luisa Garozzo, Dominico Matthijs, Gert Ferster, Alina Jaeken, Jaak (2012) Annual Symposium of the Society for the Study of Inborn Errors of Metabolism — (United Kingdom) Birmingham

Journal article

Congenital disorders of glycosylation (CDG): Quo vadis?

Péanne, Romain de Lonlay, Pascale Foulquier, François Kornak, Uwe Lefeber, Dirk J Morava, Eva Pérez, Belén Seta, Nathalie Thiel, Christian Van Schaftingen, Emile[UCL] Matthijs, Gert Jaeken, Jaak (2018) European journal of medical genetics — Vol. 61, no.11, p. 643-663 (2018)

Journal article

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jansen, Jos C. Cirak, Sebahattin van Scherpenzeel, Monique Timal, Sharita Reunert, Janine Rust, Stephan Pérez, Belén Vicogne, Dorothée Krawitz, Peter Wada, Yoshinao Ashikov, Angel Pérez-Cerdá, Celia Medrano, Celia Arnoldy, Andrea Hoischen, Alexander Huijben, Karin Steenbergen, Gerry Quelhas, Dulce Diogo, Luisa Rymen, Daisy Jaeken, Jaak Guffon, Nathalie Cheillan, David van den Heuvel, Lambertus P. Maeda, Yusuke Kaiser, Olaf Schara, Ulrike Gerner, Patrick van den Boogert, Marjolein A.W. Holleboom, Adriaan G. Nassogne, Marie-Cécile[UCL] Sokal, Etienne[UCL] Salomon, Jody van den Bogaart, Geert Drenth, Joost P.H. Huynen, Martijn A. Veltman, Joris A. Wevers, Ron A. Morava, Eva Matthijs, Gert Foulquier, François Marquardt, Thorsten Lefeber, Dirk J. (2016) American Journal of Human Genetics — Vol. 98, no.2, p. 310-321 (2016)

Journal article

MAN1B1 deficiency: an unexpected CDG-II.

Rymen, Daisy Peanne, Romain Millón, María B Race, Valérie Sturiale, Luisa Garozzo, Domenico Mills, Philippa Clayton, Peter Asteggiano, Carla G Quelhas, Dulce Cansu, Ali Martins, Esmeralda Nassogne, Marie-Cécile[UCL] Gonçalves-Rocha, Miguel Topaloglu, Haluk Jaeken, Jaak Foulquier, François Matthijs, Gert (2013) PLoS Genetics — Vol. 9, no.12, p. e1003989 (2013)

Journal article

Phosphoserine phosphatase deficiency in a patient with Williams syndrome

Jaeken, Jaak Detheux, Michel Fryns, Jean-Pierre Collet, Jean-François[UCL] Alliet, Philippe Van Schaftingen, Emile[UCL] (1997) Journal of Medical Genetics — Vol. 34, no. 7, p. 594-596 (1997)

Journal article

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Matthijs, Gert Schollen, Els Pardon, Els Veiga-da-Cunha, Maria[UCL] Jaeken, Jaak Cassiman, Jean-Jacques Van Schaftingen, Emile[UCL] (1997) Nature Genetics — Vol. 16, no. 1, p. 88-92 (1997)

Journal article

Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography.

De Volder, Anne[UCL] Jaeken, Jaak Van den Berghe, Georges Bol, Anne[UCL] Michel, Christian[UCL] Cogneau, M. Goffinet, André[UCL] (1988) Pediatric research — Vol. 24, no. 2, p. 238-42 (1988)

Journal article

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)

Journal article

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Potelle, Sven Morelle, Willy Dulary, Eudoxie Duvet, Sandrine Vicogne, Dorothée Spriet, Corentin Krzewinski-Recchi, Marie-Ange Morsomme, Pierre[UCL] Jaeken, Jaak Matthijs, Gert De Bettignies, Geoffroy Foulquier, François (2016) Human Molecular Genetics — Vol. 25, no.8, p. 1489-1500 (2016)

Journal article

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

De Laet, Corinne Terrones Munoz, Vanessa Jaeken, Jaak François, Baudouin Carton, Dietbrandt Sokal, Etienne[UCL] Dan, Bernard Goyens, Philippe J (2011) Developmental Medicine and Child Neurology — Vol. 53, no. 10, p. 962-964 (2011)

Journal article

GNAS defects identified by stimulatory G protein alpha subunit signalling studies in platelets.

Freson, Kathleen Izzi, Benedetta Labarque, Veerle Van Helvoirt, Monique Thys, Chantal Wittevrongel, Christine Bex, Marie Bouillon, Roger Godefroid, Nathalie[UCL] Proesmans, Willem de Zegher, Francis Jaeken, Jaak Van Geet, Chris (2008) Journal of Clinical Endocrinology and Metabolism — Vol. 93, no. 12, p. 4851-4859 (2008)

Journal article

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation.

Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre[UCL] Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert (2012) American Journal of Human Genetics — Vol. 91, no. 1, p. 15-26 (2012)

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