Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease von Cario, Holger, Smith, Desirée E.C., Blom, Henk, Blau, Nenad, Bode, Harald, Holzmann, Karlheinz, Pannicke, Ulrich, Hopfner, Karl-Peter, Rump, Eva-Maria, Ayric, Zuleya, Kohne, Elisabeth, Debatin, Klaus-Michael, Smulders, Yvo, Schwarz, Klaus

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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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SLC26A1 is a major determinant of sulfate homeostasis in humans von Pfau, Anja, López-Cayuqueo, Karen I, Scherer, Nora, Wuttke, Matthias, Wernstedt, Annekatrin, González Fassrainer, Daniela, Smith, Desiree Ec, van de Kamp, Jiddeke M, Ziegeler, Katharina, Eckardt, Kai-Uwe, Luft, Friedrich C, Aronson, Peter S, Köttgen, Anna, Jentsch, Thomas J, Knauf, Felix

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Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency von Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.

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Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C von Mendes, Marisa I S, Smith, Desirée E C, Vicente, João B, Tavares De Almeida, Isabel, Ben-Omran, Tawfeg, Salomons, Gajja S, Rivera, Isabel A, Leandro, Paula, Blom, Henk J

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Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid von Smith, Desirée E.C., Smulders, Yvo M., Blom, Henk J., Popp, Julius, Jessen, Frank, Semmler, Alexander, Farkas, Melinda, Linnebank, Michael

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Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins von Mendes, Marisa I. S., Santos, Ana Sofia, Smith, Desirée E. C., Lino, Paulo Roque, Colaço, Henrique G., de Almeida, Isabel Tavares, Vicente, João B., Salomons, Gajja S., Rivera, Isabel, Blom, Henk J., Leandro, Paula

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Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects von Kok, Robert M., Smith, Desirée E.C., Barto, Rob, Spijkerman, Annemieke M.W., Teerlink, Tom, Gellekink, Henk J., Jakobs, Cornelis, Smulders, Yvo M.

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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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A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts von Smith, Desirée E.C., Mendes, Marisa I.S., Kluijtmans, Leo A.J., Janssen, Mirian C.H., Smulders, Yvo M., Blom, Henk J.

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Evaluation of the novel folate receptor ligand [18F]fluoro-PEG-folate for macrophage targeting in a rat model of arthritis von Gent, Yoony Y J, Weijers, Karin, Molthoff, Carla F M, Windhorst, Albert D, Huisman, Marc C, Smith, Desirée E C, Kularatne, Sumith A, Jansen, Gerrit, Low, Philip S, Lammertsma, Adriaan A, van der Laken, Conny J

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Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism von Smith, Desirée E.C., Hornstra, Jacqueline M., Kok, Robert M., Blom, Henk J., Smulders, Yvo M.

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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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Ottawa Panel Evidence-Based Clinical Practice Guidelines for Structured Physical Activity in the Management of Juvenile Idiopathic Arthritis von Cavallo, Sabrina, OT, PhD, Brosseau, Lucie, PT, PhD, Toupin-April, Karine, OT, PhD, Wells, George A., PhD, Smith, Christine A., BHSc, Pugh, Arlanna G., BHSc, Stinson, Jennifer, RN-EC, PhD, Thomas, Roanne, PhD, Ahmed, Sara, PT, PhD, Duffy, Ciarán M., MD, MSc, Rahman, Prinon, MSc, Àlvarez-Gallardo, Inmaculada C., PhD, Loew, Laurianne, PT, PhD, De Angelis, Gino, MSc, Feldman, Debbie Ehrmann, PT, PhD, Majnemer, Annette, OT, PhD, Gagnon, Isabelle J., PT, PhD, Maltais, Désirée, PT, PhD, Mathieu, Marie-Ève, PhD, Kenny, Glen P., PhD, Tupper, Susan, PT, PhD, Whitney-Mahoney, Kristi, PT, MSc, Bigford, Sarah, PT, MSc

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Prognostic factors for radioimmunotherapy in patients with B-lymphocytic malignancies von DeNardo, G L, Lamborn, K R, DeNardo, S J, Goldstein, D S, Dolber-Smith, E G, Kroger, L A, Larkin, E C, Shen, S

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