Long-term neurodevelopmental outcome of patients with Mucopolysaccharidosis-1H (MPS-1H) following hematopoietic stem cell transplantation (HSCT) von Hartmann, H, Prüfe, J, Illsinger, S, Das, A.M, Lücke, T, Grigull, L

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3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy von WORTMANN, S. B, KREMER, B. H, WILCKEN, B, CRUYSBERG, J. R, DAS, A. M, MORAVA, E, WEVERS, R. A, GRAHAM, A, WILLEMSEN, M. A, LOUPATTY, F. J, HOGG, S. L, ENGELKE, U. F, KLUIJTMANS, L. A, WANDERS, R. J, ILLSINGER, S

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OP82 – 2546: Neurological manifestation in children with Mycoplasma pneumoniae infection von Kammer, J, Ziesing, S, Davila, L. Aguirre, Illsinger, S, Das, A.M, Hartmann, H

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Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts von Lücke, Thomas, Höppner, Wiebke, Schmidt, Esther, Illsinger, Sabine, Das, Anibh M

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Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression von Illsinger, S., Lücke, T., Hartmann, H., Mengel, E., Müller-Forell, W., Donnerstag, F., Das, A. M.

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Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful von Das, A. M., Goedecke, K., Meyer, U., Kanzelmeyer, N., Koch, S., Illsinger, S., Lücke, T., Hartmann, H., Lange, K., Lanfermann, H., Hoy, L., Ding, X.-Q.

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Prenatal benzoate treatment in urea cycle defects von Das, A M, Illsinger, S, Hartmann, H, Oehler, K, Bohnhorst, B, Kühn-Velten, W N, Lücke, T

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Inborn Errors of Energy Metabolism Associated with Myopathies von Das, Anibh M., Steuerwald, Ulrike, Illsinger, Sabine

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Developmental changes of oxalate excretion in enterally fed preterm infants von Illsinger, S., Lücke, T., Vaske, B., Schmidt, K.-H., Bohnhorst, B., Das, A. M.

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Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms von Illsinger, S, Marquardt, I, Lücke, T, Hellerud, C, Korenke, C, Das, A M

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P308 Observation of NO pathway in homocystinuria and phenylketonuria (PKU) von Kanzelmeyer, N.K, Tsikas, D, Hartmann, H, Illsinger, S, Das, A.M, Lücke, T

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Developmental changes of oxalate excretion in enterally fed preterm infants von Illsinger, S, Lücke, T, Vaske, B, Schmidt, K.-H, Bohnhorst, B, Das, A. M

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P057 Neurodevelopmental follow-up of children with congenital kidney disease and chronic renal failure at school age von Hawellek, N, Pape, L, Hoy, L, Wedekin, M, Lücke, T, Illsinger, S, Das, A.M, Ehrich, J.H.H, Hartmann, H

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Branched chain amino acids as a parameter for catabolism in treated phenylketonuria von Illsinger, S, Lücke, T, Meyer, U, Vaske, B, Das, A M

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort... von Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy von Kölbel, Heike, Pechmann, Astrid, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Lochmüller, Hanns, Roos, Andreas, Andres, Barbara, Baum, Tobias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Geitmann, Stephanie, Goldhahn, Klaus, Grosskreutz, Julian, Guillemot, Helene, Günther, René, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holzwarth, Dorothea, Horber, Veronka, Jansen, Eva, Kaindl, Angela, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Lehnert, Ilka, Lingor, Paul, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Odorfer, Thorsten, Pauschek, Josefine, Pickrodt, Katrin, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Rödiger, Annekathrin, Saffari, Afshin, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwersenz, Inge, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Thiele, Simone, Topakian, Raffi, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiss, Deike, Weiss, Simone, Wiebe, Nils, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, Ziegler, Andreas

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MLO05 Developmental outcome in five children with M. Hurler after stem cell transplantation with fludarabine based preparative regimen von Lücke, T, Das, A, Hartmann, H, Sykora, K.W, Donnerstag, F, Illsinger, S, Sauer, M, Grigull, L

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Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data von Mehta, A, Dr, Beck, M, Prof, Elliott, P, FRCP, Giugliani, R, Prof, Linhart, A, Prof, Sunder-Plassmann, G, Prof, Schiffmann, R, Prof, Barbey, F, MD, Ries, M, MD, Clarke, JTR, Prof

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Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene von Das, Anibh M, Illsinger, Sabine, Lucke, Thomas, Hartmann, Hans, Ruiter, Jos P.N, Steuerwald, Ulrike, Waterham, Hans R, Duran, Marinus, Wanders, Ronald J.A

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Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study von Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C, Steinbach, Meike, Blaschek, Astrid, Baumann, Matthias, Baumgartner, Manuela, Becker, Benedikt, Flotats-Bastardas, Marina, Friese, Johannes, Günther, Rene, Hahn, Andreas, Küpper, Hanna, Johannsen, Jessika, Kamm, Christoph, Koch, Jan Christoph, Köhler, Cornelia, Kölbel, Heike, Kolzter, Kirsten, von Moers, Arpad, Naegel, Steffen, Neuwirth, Christoph, Petri, Susanne, Rödiger, Annekathrin, Schimmel, Mareike, Schrank, Bertold, Schreiber, Gudrun, Smitka, Martin, Stadler, Christian, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Türk, Matthias, Weiler, Markus, Stoltenburg, Corinna, Willichowsky, Ekkehard, Zeller, Daniel, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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