Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency
Schrijver-Wieling, Iris, van Rens, Ger H M B, Wittebol-Post, Dienke, Smeitink, Jan A M, de Jager, Jan P, de Klerk, Hans B C, van Lith, Godfried H M
Published in British journal of ophthalmology (01.04.1997)
Published in British journal of ophthalmology (01.04.1997)
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Journal Article
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
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, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
Steenweg, Marjan E, Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J.M, Adeva Bartolomé, Maria T, Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T.R, Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D, de Klerk, Hans B.C, Korman, Stanley H, Lee, Céline, Meldgaard Lund, Allan, Mejaški-Bošnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L, Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K, Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I, Spreeuwenberg, Marieke D, Celli, Jacopo, den Dunnen, Johan T, van der Knaap, Marjo S, Salomons, Gajja S
Published in Human mutation (01.04.2010)
Published in Human mutation (01.04.2010)
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Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic
Damen, Gerard, de Klerk, Hans, Huijmans, Jan, den Hollander, Jan, Sinaasappel, Maarten
Published in Journal of pediatric gastroenterology and nutrition (01.03.2004)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2004)
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Journal Article
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
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, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
Lymphatic Edema in Congenital Disorders of Glycosylation
Verstegen, Ruud HJ, Theodore, Miranda, van de Klerk, Hans, Morava, Eva
Published in JIMD Reports - Case and Research Reports, 2012/1 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/1 (01.01.2012)
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Book Chapter
Journal Article
Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic
Damen, Gerard, Klerk, Hans, Huijmans, Jan, den Hollander, Jan, Sinaasappel, Maarten
Published in Journal of pediatric gastroenterology and nutrition (01.03.2004)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2004)
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