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Author/Creator Jaeken, Jaak

1. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019)

Authors:
Padmakumar, Manisha; Jaeken, Jaak; Ramaekers, Vincent; Lagae, Lieven; Greene, Daniel; Thys, Chantal; Van Geet, Chris; BioResource, NIHR; Stirrups, Kathleen; Downes, Kate; Turro, Ernest; Freson, Kathleen
Journal:
JIMD reports
Issue:
Volume 47:Issue 1(2019)
Page Start:
9
Record Type:
Journal Article
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2. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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3. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016)

Authors:
Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
713
Record Type:
Journal Article
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4. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG). Issue 5 (22nd March 2019)

Authors:
Martínez‐Monseny, Antonio F.; Bolasell, Mercè; Callejón‐Póo, Laura; Cuadras, Daniel; Freniche, Verónica; Itzep, Débora C.; Gassiot, Susanna; Arango, Pedro; Casas‐Alba, Didac; de la Morena, Eugenia; Corral, Javier; Montero, Raquel; Pérez‐Cerdá, Celia; Pérez, Belén; Artuch, Rafael; Jaeken, Jaak; Se...
Other Names:
Velázquez‐Fragua Ramón investigator.; García Oscar investigator.; Gutierrez‐Solana Luis G investigator.; Macaya Alfons investigator.; Pérez‐Dueñas Belén investigator.; Aguilera‐Albesa Sergio investigator.; López Laura investigator.; Miranda Ma Concepción investigator.; Carratala Francisco investi...
Journal:
Annals of neurology
Issue:
Volume 85:Issue 5(2019)
Page Start:
740
Record Type:
Journal Article
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5. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Issue 15 (9th March 2022)

Authors:
Wilson, Matthew P; Durin, Zoé; Unal, Özlem; Ng, Bobby G; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gündüz, Mehmet; Köse, Gülşen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H; Jaeken, Jaak; Foulquier, François; Matthijs, Gert
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 15(2022)
Page Start:
2571
Record Type:
Journal Article
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8. Clinical presentation and outcome in a series of 88 patients with the cblC defect. Issue 5 (6th March 2014)

Authors:
Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B.; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, D...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
831
Record Type:
Journal Article
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10. Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (8th August 2016)

Authors:
Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
759
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗