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Author/Creator Huijben, Karin

1. 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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2. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019)

Authors:
Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
553
Record Type:
Journal Article
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3. 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) ↗

4. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. (5th June 2018)

Authors:
Ashikov, Angel; Abu Bakar, Nurulamin; Wen, Xiao-Yan; Niemeijer, Marco; Rodrigues Pinto Osorio, Glentino; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothée; Ondruskova, Nina; Simon, Marleen E H; Pfundt, Rolph; Timal, Sharita; Beumers, Roel; Biot, Chr...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 17(2018:Sep. 01)
Page Start:
3029
Record Type:
Journal Article
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5. Screening for abnormal glycosylation in a cohort of adult liver disease patients. Issue 6 (17th July 2020)

Authors:
Jansen, Jos C.; van Hoek, Bart; Metselaar, Herold J.; van den Berg, Aad P.; Zijlstra, Fokje; Huijben, Karin; van Scherpenzeel, Monique; Drenth, Joost P. H.; Lefeber, Dirk J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1310
Record Type:
Journal Article
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6. Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1. Issue 4 (28th March 2022)

Authors:
Abu Bakar, Nurulamin; Ashikov, Angel; Brum, Jaime Moritz; Smeets, Roel; Kersten, Marjan; Huijben, Karin; Keng, Wee Teik; Speck‐Martins, Carlos Eduardo; de Carvalho, Daniel Rocha; de Rizzo, Isabela Maria Pinto Oliveira; de Mello, Walquiria Domingues; Heiner‐Fokkema, Rebecca; Gorman, Kathleen; Grun...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
769
Record Type:
Journal Article
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7. Toward understanding tissue‐specific symptoms in dolichol‐phosphate‐mannose synthesis disorders; insight from DPM3‐CDG. Issue 5 (23rd April 2019)

Authors:
van Tol, Walinka; Michelakakis, Helen; Georgiadou, Elissavet; van den Bergh, Peter; Moraitou, Marina; Papadimas, George K.; Papadopoulos, Constantinos; Huijben, Karin; Alsady, Mohammad; Willemsen, Michèl A.; Lefeber, Dirk J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
984
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗