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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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS von Mendes, Marisa I, Wolf, Nicole I, Rudinger-Thirion, Joëlle, Lenz, Dominic, Frugier, Magali, Verloo, Patrick, Mandel, Hanna, Manor, Joshua, Kassel, Rachel, Corpeleijn, Willemijn E, van der Rijt, Sanne, Schroor, Elsbeth M, van Dooren, Silvy J M, Staufner, Christian, Salomons, Gajja S, Smith, Desirée E C

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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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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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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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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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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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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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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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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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Escherichia coli Hemoglobin Protease Autotransporter Contributes to Synergistic Abscess Formation and Heme-Dependent Growth of Bacteroides fragilis von Otto, Ben R, van Dooren, Silvy J M, Dozois, Charles M, Luirink, Joen, Oudega, Bauke

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

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy von Coughlin, 2nd, 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, Jr, 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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