Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application von Rosenberg, Efraim H., Martínez Muñoz, Cristina, Betsalel, Ofir T., van Dooren, Silvy J.M., Fernandez, Matilde, Jakobs, Cornelis, deGrauw, Ton J., Kleefstra, Tjitske, Schwartz, Charles E., Salomons, Gajja S.

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy von Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., Van Hove, Johan L. K.

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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria von Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants von Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., Dooren, Silvy J. M., Ozturk, Senay, Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, Knaap, Marjo S., Gibson, K. Michael, Schaftingen, Emile, Salomons, Gajja S.

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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients von Beerepoot, Shanice, van Dooren, Silvy J.M., Salomons, Gajja S., Boelens, Jaap Jan, Jacobs, Edwin H., van der Knaap, Marjo S., van Kuilenburg, André B.P., Wolf, Nicole I.

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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants von Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.

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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity von Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S

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Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency von Pop, Ana, Smith, Desirée E.C., Kirby, Trevor, Walters, Dana, Gibson, K. Michael, Mahmoudi, Soufiane, van Dooren, Silvy J.M., Kanhai, Warsha A., Fernandez-Ojeda, Matilde R., Wever, Eric J.M., Koster, Janet, Waterham, Hans R., Grob, Bram, Roos, Birthe, Wamelink, Mirjam M.C., Chen, Justin, Natesan, Senthil, Salomons, Gajja S.

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overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study von 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

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RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix von Nota, Benjamin, Ndika, Joseph D. T., van de Kamp, Jiddeke M., Kanhai, Warsha A., van Dooren, Silvy J. M., van de Wiel, Mark A., Pals, Gerard, Salomons, Gajja S.

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X-Linked Creatine-Transporter Gene ( SLC6A8) Defect: A New Creatine-Deficiency Syndrome von Salomons, Gajja S., van Dooren, Silvy J.M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients von Mendes, Marisa I. S., Colaço, Henrique G., Smith, Desirée E. C., Ramos, Rúben J. J. F., Pop, Ana, van Dooren, Silvy J. M., Tavares de Almeida, Isabel, Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rivera, Isabel, Salomons, Gajja S., Leandro, Paula, Blom, Henk J.

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy von Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., Van Hove, Johan L. K.

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Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing von Nota, Benjamin, Hamilton, Eline M, Sie, Daoud, Ozturk, Senay, van Dooren, Silvy J M, Ojeda, Matilde R Fernandez, Jakobs, Cornelis, Christensen, Ernst, Kirk, Edwin P, Sykut-Cegielska, Jolanta, Lund, Allan M, van der Knaap, Marjo S, Salomons, Gajja S

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Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing von Ndika, Joseph D.T., Martinez-Munoz, Cristina, Anand, Nandaja, van Dooren, Silvy J.M., Kanhai, Warsha, Smith, Desiree E.C., Jakobs, Cornelis, Salomons, Gajja S.

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Characterization of a hemoglobin protease secreted by the pathogenic Escherichia coli strain EB1 von Otto, B R, van Dooren, S J, Nuijens, J H, Luirink, J, Oudega, B

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DNA supercoiling depends on the phosphorylation potential in Escherichia coli von Workum, Marielle, Dooren, Silvy J. M., Oldenburg, Nienke, Molenaar, Douwe, Jensen, Peter R., Snoep, Jacky L., Westerhoff', Hans V.

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Purification of the autotransporter protein Hbp of Escherichia coli von van Dooren, Silvy J.M., Tame, Jeremy R.H., Luirink, Joen, Oudega, Bauke, Otto, Ben R.

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Characterization and crystallization of a novel haemoglobinase from pathogenic Escherichia coli von Tame, Jeremy R. H., Van Dooren, Silvy J. M., Oudega, Bauke, Otto, Ben R.

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Purification of the autotransporter protein Hbp of Escherichia coli von van Dooren, Silvy J.M., Tame, Jeremy R.H., Luirink, Joen, Oudega, Bauke, Otto, Ben R.

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