Kohlmüller, Dirk Dr. rer. nat.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
- Lindner, Martin (4)
- Stahl, Mirjam (3)
- Happich, Margit (3)
- Schulze, Andreas (3)
- Gramer, Gwendolyn (3)
- Mayatepek, Ertan (3)
- Hörster, Friederike (2)
- Opladen, Thomas (2)
- Vill, Katharina (2)
- Pöschl, Johannes (1)
- Leible, Svenja (1)
- Linderkamp, Otwin (1)
- Brennenstuhl, Heiko (1)
- Klinke, Glynis (1)
- Feyh, Patrik (1)
- Feneberg, Reinhard (1)
- Reischl-Hajiabadi, Anna Theresa (1)
- Janda, Joachim (1)
- Meyburg, Jochen (1)
- Garbade, Sven (1)
- Syrbe, Steffen (1)
- Mütze, Ulrike (1)
- Hämmerling, Susanne Hedwig (1)
Co-Autoren (extern)
- Wajner, Moacir (1)
- Ahlemeyer, Barbara (1)
- McHugh, David (1)
- Zsidegh, Petra (1)
- Szatmári, Ildikó (1)
- Rácz, Gábor (1)
- Godejohann, Markus (1)
- Röschinger, Wulf (1)
- Durner, Jürgen (1)
- Schuhmann, Elfriede (1)
- Janzen, Nils (1)
- Krieglstein, Josef (1)
- Weber, K. (1)
Publikationen in heiBIB 
- Reischl-Hajiabadi, Anna Theresa: Newborn screening for aromatic l-amino acid decarboxylase deficiency : strategies, results, and implication for prevalence calculations / Anna T. Reischl-Hajiabadi, Jürgen G. Okun, Dirk Kohlmüller, Georgi Manukjan, Sebastian Hegert, Jürge… , 31 January 2024. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3, Artikel-ID 108148, Seite 108148-1-108148-7
DOI: 10.1016/j.ymgme.2024.108148
- Monostori, Péter: Identification of potential interferents of methylmalonic acid : a previously unrecognized pitfall in clinical diagnostics and newborn screening / Péter Monostori, Markus Godejohann, Joachim Janda, Zsolt Galla, Gábor Rácz, Glynis Klinke, Ildikó Sz… , 2023. - 9 S. : Diagramme
In: Clinical biochemistry, ISSN 1873-2933. 111(2023) vom: Jan., Seite 72-80
DOI: 10.1016/j.clinbiochem.2022.09.010
- Sommerburg, Olaf: Final results of the southwest German pilot study on cystic fibrosis newborn screening : evaluation of an IRT/PAP protocol with IRT-dependent safety net / Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, Gwendolyn Gramer, Martina U. Muckenthaler, Jürgen… , 2022. - 12 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 21(2022), 3 vom: Mai, Seite 422-433
DOI: 10.1016/j.jcf.2021.10.007
- Brennenstuhl, Heiko: High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots / Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, … , 2020. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 3, Seite 602-610
DOI: 10.1002/jimd.12208
- Weidler, Sophia: A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening / Sophia Weidler, Konrad H. Stopsack, Jutta Hammermann, Olaf Sommerburg, Marcus A. Mall, Georg F. Hoff… , 22 July 2016. - 7 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 15(2016), 6, Seite 752-758
DOI: 10.1016/j.jcf.2016.07.002
- Sommerburg, Olaf: Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany / Olaf Sommerburg, Jutta Hammerman, Martin Lindner, Mirjam Stahl, Martina Muckenthaler, Dirk Kohlmuell… . - 10 S.
In: Pediatric pulmonology, ISSN 1099-0496. 50(2015), 7, S. 655-664
DOI: 10.1002/ppul.23190
- Sommerburg, Olaf: Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations / Olaf Sommerburg ; Veronika Krulisova ; Jutta Hammermann ; Martin Lindner ; Mirjam Stahl ; Martina Mu… . - 9 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 13(2014), 1, S. 15-23
DOI: 10.1016/j.jcf.2013.06.003
- McHugh, David: Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry : a worldwide collaborative project / David M.S. McHugh, Cynthia A. Cameron, Jose E. Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed… , 15 February 2011. - 25 S.
In: Genetics in medicine, ISSN 1530-0366. 13(2011), 3, Seite 230-254
DOI: 10.1097/GIM.0b013e31820d5e67
- Binder, Gerhard: Analysis of the GH content within archived dried blood spots of newborn screening cards from children diagnosed with growth hormone deficiency after the neonatal period / G. Binder, S. Hettmann, K. Weber, D. Kohlmüller, R. Schweizer, 8 September 2011. - 4 S.
In: Growth hormone & IGF research, ISSN 1532-2238. 21(2011), 6 vom: Dez., Seite 314-317
DOI: 10.1016/j.ghir.2011.07.009
- Sommerburg, Olaf: Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population / Olaf Sommerburg, Martin Lindner, Martina Muckenthaler, Dirk Kohlmueller, Svenja Leible, Reinhard Fen… , 17 August 2010. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), Suppl 2, Seite S263-271
DOI: 10.1007/s10545-010-9174-7
- Schulze, Andreas: Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry : results, outcome, and implications / Andreas Schulze, Martin Lindner, Dirk Kohlmüller, Katharina Olgemöller, Ertan Mayatepek, Georg F. Ho… , June 1, 2003. - 8 S.
In: Pediatrics, ISSN 1098-4275. 111(2003), 6, Seite 1399-1406
DOI: 10.1542/peds.111.6.1399
- Kölker, Stefan: Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons / Stefan Kölker, Jürgen G. Okun, Barbara Ahlemeyer, Angela T.S. Wyse, Friederike Hörster, Moacir Wajne… , 05 April 2002. - 7 S.
In: Journal of neuroscience research, ISSN 1097-4547. 68(2002), 4, Seite 424-431
DOI: 10.1002/jnr.10189
- Okun, Jürgen G.: A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid : diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency / Jürgen G Okun, Stefan Kölker, Andreas Schulze, Dirk Kohlmüller, Katharina Olgemöller, Martin Lindner… , 19 September 2002. - 8 S.
In: Biochimica et biophysica acta, ISSN 1879-2618. 1584(2002), 2, Seite 91-98
DOI: 10.1016/S1388-1981(02)00296-2
- Meyburg, Jochen: Acylcarnitine profiles of preterm infants over the first four weeks of life / Jochen Meyburg, Andreas Schulze, Dirk Kohlmueller, Johannes Pöschl, Otwin Linderkamp, Georg F. Hoffm… , April 22, 2002. - 4 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 5, Seite 720-723
DOI: 10.1203/00006450-200211000-00018
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