Search Results - du Moulin, Marcel

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  1. 1
    Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

    Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations by du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J, Rutsch, Frank

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  2. 2
    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

    Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 by Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank

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  3. 3
    Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age

    Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age by Muntau, Ania C, du Moulin, Marcel, Feillet, Francois

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  4. 4
    A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

    A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis by Santer, René, du Moulin, Marcel, Shahinyan, Tatevik, Vater, Inga, Maier, Esther, Muntau, Ania C, Steinmann, Beat

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  5. 5
    Retinal hyperreflective foci in Fabry disease

    Retinal hyperreflective foci in Fabry disease by Atiskova, Yevgeniya, Rassuli, Rahman, Koehn, Anja Friederike, Golsari, Amir, Wagenfeld, Lars, du Moulin, Marcel, Muschol, Nicole, Dulz, Simon

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  6. 6
    Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

    Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group by Köhn, Anja F., Grigull, Lorenz, du Moulin, Marcel, Kabisch, Sarah, Ammer, Luise, Rudolph, Cornelia, Muschol, Nicole M.

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  7. 7
    Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

    Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms by du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris

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  8. 8
    Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

    Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study by Leuders, Sarah, Wolfgart, Eva, Ott, Torsten, du Moulin, Marcel, van Teeffelen-Heithoff, Agnes, Vogelpohl, Lydia, Och, Ulrike, Marquardt, Thorsten, Weglage, Josef, Feldmann, Reinhold, Rutsch, Frank

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