Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Journal Article
Validation of MCADD newborn screening
Maier, EM, Pongratz, J, Muntau, AC, Liebl, B, Nennstiel-Ratzel, U, Busch, U, Fingerhut, R, Olgemöller, B, Roscher, AA, Röschinger, W
Published in Clinical genetics (01.08.2009)
Published in Clinical genetics (01.08.2009)
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Journal Article
α1 Antitrypsin and the prevalence and severity of asthma
von Ehrenstein, O S, Maier, E M, Weiland, S K, Carr, D, Hirsch, T, Nicolai, T, Roscher, A A, von Mutius, E
Published in Archives of disease in childhood (01.03.2004)
Published in Archives of disease in childhood (01.03.2004)
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Journal Article
Very mild cases of Rett syndrome with skewed X inactivation
Huppke, P, Maier, E M, Warnke, A, Brendel, C, Laccone, F, Gärtner, J
Published in Journal of medical genetics (01.10.2006)
Published in Journal of medical genetics (01.10.2006)
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Journal Article
First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome
Strenge, S., Froster, U. G., Wanders, R. J. A., Gartner, J., Maier, E. M., Muntau, A. C., Faber, R.
Published in Prenatal diagnosis (28.02.2004)
Published in Prenatal diagnosis (28.02.2004)
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Journal Article
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
Zwickler, T., Lindner, M., Aydin, H. I., Baumgartner, M. R., Bodamer, O. A., Burlina, A. B., Das, A. M., deKlerk, J. B. C., Gökcay, G., Grünewald, S., Guffon, N., Maier, E. M., Morava, E., Geb, S., Schwahn, B., Walter, J. H., Wendel, U., Wijburg, F. A., Müller, E., Kölker, S., Hörster, F.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Hörster, F., Garbade, S. F., Zwickler, T., Aydin, H. I., Bodamer, O. A., Burlina, A. B., Das, A. M., De Klerk, J. B. C., Dionisi-Vici, C., Geb, S., Gökcay, G., Guffon, N., Maier, E. M., Morava, E., Walter, J. H., Schwahn, B., Wijburg, F. A., Lindner, M., Grünewald, S., Baumgartner, M. R., Kölker, S.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency
Holzinger, Andreas, Maier, Esther M., Bück, Cornelius, Mayerhofer, Peter U., Kappler, Matthias, Haworth, James C., Moroz, Stanley P., Hadorn, Hans-Beat, Sadler, J. Evan, Roscher, Adelbert A.
Published in American journal of human genetics (01.01.2002)
Published in American journal of human genetics (01.01.2002)
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Journal Article
A Formal Total Synthesis of Dysidiolide
Paczkowski, Ralph, Maichle-Mössmer, Cäcilia, Maier, Martin E
Published in Organic letters (14.12.2000)
Published in Organic letters (14.12.2000)
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Journal Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2023)
Published in Journal of inherited metabolic disease (01.05.2023)
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X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier, Esther M., Mayerhofer, Peter U., Asheuer, Muriel, Köhler, Wolfgang, Rothe, Martina, Muntau, Ania C., Roscher, Adelbert A., Holzinger, Andreas, Aubourg, Patrick, Berger, Johannes
Published in Biochemical and biophysical research communications (05.12.2008)
Published in Biochemical and biophysical research communications (05.12.2008)
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