IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria von Kranendijk, Martijn, Struys, Eduard A, van Schaftingen, Emile, Gibson, K. Michael, Kanhai, Warsha A, van der Knaap, Marjo S, Amiel, Jeanne, Buist, Neil R, Das, Anibh M, de Klerk, Johannis B, Feigenbaum, Annette S, Grange, Dorothy K, Hofstede, Floris C, Holme, Elisabeth, Kirk, Edwin P, Korman, Stanley H, Morava, Eva, Morris, Andrew, Smeitink, Jan, Sukhai, Rám N, Vallance, Hilary, Jakobs, Cornelis, Salomons, Gajja S

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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy von KEVELAM, Sietske H, BUGIANI, Marianna, KANHAI, Warsha A, WOLF, Nicole I, ABBINK, Truus E. M, WAISFISZ, Quinten, HEUTINK, Peter, DER KNAAP, Marjo S. Van, SALOMONS, Gajja S, FEIGENBAUM, Annette, BLASER, Susan, PRASAD, Chitra, HÄBERLE, Johannes, BARIC, Ivo, BAKKER, Ingrid M. C, POSTMA, Nienke L

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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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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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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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Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis von Phylipsen, Marion, Yamsri, Supawadee, Treffers, Emmely E., Jansen, Diahann T. S. L., Kanhai, Warsha A., Boon, Elles M. J., Giordano, Piero C., Fucharoen, Supan, Bakker, Egbert, Harteveld, Cornelis L.

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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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Beta-Globin Gene Cluster Haplotypes in Yemeni Children with Sickle Cell Disease von Al-Saqladi, Abdul-Wahab M., Brabin, Bernard J., Bin-Gadeem, Hassan A., Kanhai, Warsha A., Phylipsen, Marion, Harteveld, Cornelis L.

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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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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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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy von Kevelam, Sietske H, Bugiani, Marianna, Salomons, Gajja S, Feigenbaum, Annette, Blaser, Susan, Prasad, Chitra, Häberle, Johannes, Barić, Ivo, Bakker, Ingrid M C, Postma, Nienke L, Kanhai, Warsha A, Wolf, Nicole I, Abbink, Truus E M, Waisfisz, Quinten, Heutink, Peter, van der Knaap, Marjo S

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Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene von Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.

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Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes von Ndika, Joseph D.T., Lusink, Vera, Beaubrun, Claudine, Kanhai, Warsha, Martinez-Munoz, Cristina, Jakobs, Cornelis, 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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Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1 von Milh, Mathieu, Pop, Ana, Kanhai, Warsha, Villeneuve, Nathalie, Cano, Aline, Struys, Eduard A., Salomons, Gajja S., Chabrol, Brigitte, Jakobs, Cornelis

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