Search Results - Smith, Desiree Ec

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  1. 1
    Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

    Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease by 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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  2. 2
    SLC26A1 is a major determinant of sulfate homeostasis in humans

    SLC26A1 is a major determinant of sulfate homeostasis in humans by 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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  3. 3
    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency by 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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  4. 4
    Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

    Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C by 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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  5. 5
    Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

    Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients by 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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  6. 6
    A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts

    A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts by 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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  7. 7
    Evaluation of the novel folate receptor ligand [18F]fluoro-PEG-folate for macrophage targeting in a rat model of arthritis

    Evaluation of the novel folate receptor ligand [18F]fluoro-PEG-folate for macrophage targeting in a rat model of arthritis by 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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  8. 8
    Prognostic factors for radioimmunotherapy in patients with B-lymphocytic malignancies

    Prognostic factors for radioimmunotherapy in patients with B-lymphocytic malignancies by 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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