未登录Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jurgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike; Mueller-Felber, Wolfgang
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收藏One Year of Newborn Screening for SMA - Results of a German Pilot Project
Vill, Katharina; Koelbel, Heike; Schwartz, Oliver; Blaschek, Astrid; Olgemoeller, Bernhard; Harms, Erik; Burggraf, Siegfried; Roeschinger, Wulf; Durner, Juergen; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Schara, Ulrike; Jensen, Beate; Becker, Marc; Hohenfellner, Katharina; Mueller-Felber, Wolfgang
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收藏In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes
Ensenauer, Regina; Fingerhut, Ralph; Schriever, Sonja C.; Fink, Barbara; Becker, Marc; Sellerer, Nina C.; Pagel, Philipp; Kirschner, Andreas; Dame, Torsten; Olgemoeller, Bernhard; Roeschinger, Wulf; Roscher, Adelbert A.
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收藏Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency:: Population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, Sonia C.; Polanetz, Roman; Maier, Esther M.; Heidenreich, Sylvia C.; Niederer, Birgit; Mayerhofer, Peter U.; Lagler, Florian; Koch, Hans-Georg; Sauter, Rene; Fletcher, Janice M.; Ranieri, Enzo; Das, Anibh M.; Spiekerkoetter, Ute; Schwab, Karl O.; Poetzsch, Simone; Marquardt, Iris; Hennermann, Julia B.; Knerr, Ina; Mercimek-Mahmutoglu, Saadet; Kohlschmidt, Nicolai; Liebl, Bernhard; Fingerhut, Ralph; Olgemoeller, Bernhard; Muntau, Ania C.; Roscher, Adelbert A.; Roeschinger, Wulf
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收藏Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain aryl-CoA dehydrogenase deficiency
Maier, EM; Liebl, B; Röschinger, W; Nennstiel-Ratzel, U; Fingerhut, R; Olgemöller, B; Busch, U; Krone, N; Von Kries, R; Roscher, AA
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