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Journal Article

Gerin, Isabelle, Ury, Benoit, Breloy, Isabelle, Bouchet-Seraphin, Celine, Bolsee, Jennifer, Halbout, Mathias ORCID: 0000-0002-3011-0476, Graff, Julie, Vertommen, Didier ORCID: 0000-0001-7648-8282, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana ORCID: 0000-0002-2324-1208, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647 and Bommer, Guido T. (2016). ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan. Nat. Commun., 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Koehler, Katrin ORCID: 0000-0002-9407-1410, Malik, Meera, Mahmood, Saqib, Giesselmann, Sebastian, Beetz, Christian ORCID: 0000-0001-7061-2895, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nuernberg, Gudrun, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Braemswig, Jurgen, Muehlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame ORCID: 0000-0002-4977-9719, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile ORCID: 0000-0002-6199-7647, Kurth, Ingo ORCID: 0000-0002-5642-8378, Huebner, Angela and Huebner, Christian A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. Am. J. Hum. Genet., 93 (4). S. 727 - 735. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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