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
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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Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity
Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan, Berger, Rolf M. F., Kömhoff, Martin
Published in Pediatric Nephrology (01.05.2017)
Published in Pediatric Nephrology (01.05.2017)
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Book Review
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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