Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Linders, Peter T. A., Gerretsen, Eveline C. F., Ashikov, Angel, Vals, Mari-Anne, de Boer, Rinse, Revelo, Natalia H., Arts, Richard, Baerenfaenger, Melissa, Zijlstra, Fokje, Huijben, Karin, Raymond, Kimiyo, Muru, Kai, Fjodorova, Olga, Pajusalu, Sander, Õunap, Katrin, ter Beest, Martin, Lefeber, Dirk, van den Bogaart, Geert
Published in Nature communications (28.10.2021)
Published in Nature communications (28.10.2021)
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Journal Article
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability
Knapp, Karen M, Luu, Rebecca, Baerenfaenger, Melissa, Zijlstra, Fokje, Wessels, Hans J C T, Jenkins, Danielle, Lefeber, Dirk J, Neas, Katherine, Bicknell, Louise S
Published in Journal of human genetics (01.09.2020)
Published in Journal of human genetics (01.09.2020)
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MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A., Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., Bärenfänger, Melissa, Karnebeek, Clara D. M., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes
Baerenfaenger, Melissa, Post, Merel A, Langerhorst, Pieter, Huijben, Karin, Zijlstra, Fokje, Jacobs, Joannes F M, Verbeek, Marcel M, Wessels, Hans J C T, Lefeber, Dirk J
Published in International journal of molecular sciences (18.01.2023)
Published in International journal of molecular sciences (18.01.2023)
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Journal Article
The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform
Armony, Gad, Brehmer, Sven, Srikumar, Tharan, Pfennig, Lennard, Zijlstra, Fokje, Trede, Dennis, Kruppa, Gary, Lefeber, Dirk J, van Gool, Alain J, Wessels, Hans J C T
Published in International journal of molecular sciences (26.04.2023)
Published in International journal of molecular sciences (26.04.2023)
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Journal Article
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A, de Wit, Isis, Zijlstra, Fokje S M, Engelke, Udo F H, van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito-Lee, Joy, Lee, Beom Hee, Low, Karen J, Mallick, Andrew A, Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari-Anne, Wortmann, Saskia B, Wessels, Hans J C T, Bärenfänger, Melissa, van Karnebeek, Clara D M, Lefeber, Dirk J
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities
Wessels, Hans J.C.T., Kulkarni, Purva, van Dael, Maurice, Suppers, Anouk, Willems, Esther, Zijlstra, Fokje, Kragt, Else, Gloerich, Jolein, Schmit, Pierre-Olivier, Pengelley, Stuart, Marx, Kristina, van Gool, Alain J., Lefeber, Dirk J.
Published in Journal of advanced research (01.07.2024)
Published in Journal of advanced research (01.07.2024)
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Journal Article
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Wamelink, Mirjam M.C, Struys, Eduard A, Jansen, Erwin E.W, Levtchenko, Elena N, Zijlstra, Fokje S.M, Engelke, Udo, Blom, Henk J, Jakobs, Cornelis, Wevers, Ron A
Published in Human mutation (01.04.2008)
Published in Human mutation (01.04.2008)
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Journal Article
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
Engelke, Udo F.H., Zijlstra, Fokje S.M., Mochel, Fanny, Valayannopoulos, Vassili, Rabier, Daniel, Kluijtmans, Leo A.J., Perl, András, Verhoeven-Duif, Nanda M., de Lonlay, Pascale, Wamelink, Mirjam M.C., Jakobs, Cornelis, Morava, Éva, Wevers, Ron A.
Published in Biochimica et biophysica acta (01.11.2010)
Published in Biochimica et biophysica acta (01.11.2010)
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Journal Article
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome
Jira, P E, Wevers, R A, de Jong, J, Rubio-Gozalbo, E, Janssen-Zijlstra, F S, van Heyst, A F, Sengers, R C, Smeitink, J A
Published in Journal of lipid research (01.08.2000)
Published in Journal of lipid research (01.08.2000)
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Journal Article
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
Moolenaar, Sytske H., Knaap, Marjo S. van der, Engelke, Udo F. H., Pouwels, Petra J. W., Janssen-Zijlstra, Fokje S. M., Verhoeven, Nanda M., Jakobs, Cornelis, Wevers, Ron A.
Published in NMR in biomedicine (01.05.2001)
Published in NMR in biomedicine (01.05.2001)
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Journal Article
Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow
Baerenfaenger, Melissa, Post, Merel A., Zijlstra, Fokje, van Gool, Alain J., Lefeber, Dirk J., Wessels, Hans J. C. T.
Published in Analytical chemistry (Washington) (22.05.2024)
Published in Analytical chemistry (Washington) (22.05.2024)
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Journal Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea
Published in Nature genetics (01.07.2016)
Published in Nature genetics (01.07.2016)
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Journal Article
Screening for abnormal glycosylation in a cohort of adult liver disease patients
Jansen, Jos C., Hoek, Bart, Metselaar, Herold J., Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish
Haskovic, Minela, Coelho, Ana I., Lindhout, Martijn, Zijlstra, Fokje, Veizaj, Raisa, Vos, Rein, Vanoevelen, Jo M., Bierau, Jörgen, Lefeber, Dirk J., Rubio‐Gozalbo, M. Estela
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Journal Article
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome
JIRA, P. E, DE JONG, J. G. N, JANSSEN-ZIJLSTRA, F. S. M, WENDEL, U, WEVERS, R. A
Published in Clinical chemistry (Baltimore, Md.) (1997)
Published in Clinical chemistry (Baltimore, Md.) (1997)
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Conference Proceeding
Journal Article
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A, de Wit, Isis, Zijlstra, Fokje S M, Engelke, Udo F H, van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito-Lee, Joy, Lee, Beom Hee, Low, Karen J, Mallick, Andrew A, Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari-Anne, Wortmann, Saskia B, Wessels, Hans J C T, Bärenfänger, Melissa, van Karnebeek, Clara D M, Lefeber, Dirk J
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Erratum: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier, Valerie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heisse, Thorben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea
Published in Nature genetics (01.06.2017)
Published in Nature genetics (01.06.2017)
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Journal Article
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier, Valerie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heisse, Thorben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea
Published in Nature genetics (01.06.2017)
Published in Nature genetics (01.06.2017)
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Journal Article
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Wen, Xiao-Yan, Tarailo-Graovac, Maja, Brand-Arzamendi, Koroboshka, Willems, Anke, Rakic, Bojana, Huijben, Karin, Da Silva, Afitz, Pan, Xuefang, El-Rass, Suzan, Ng, Robin, Selby, Katheryn, Philip, Anju Mary, Yun, Junghwa, Ye, X Cynthia, Ross, Colin J, Lehman, Anna M, Zijlstra, Fokje, Abu Bakar, N, Drögemöller, Britt, Moreland, Jacqueline, Wasserman, Wyeth W, Vallance, Hilary, van Scherpenzeel, Monique, Karbassi, Farhad, Hoskings, Martin, Engelke, Udo, de Brouwer, Arjan, Wevers, Ron A, Pshezhetsky, Alexey V, van Karnebeek, Clara Dm, Lefeber, Dirk J
Published in JCI insight (20.12.2018)
Published in JCI insight (20.12.2018)
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