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Year Number of Results
2002 2
2003 3
2004 1
2005 1
2016 1
2020 1
2021 1
2022 2
2023 1
2024 3

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Page 1
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T. Reischl-Hajiabadi AT, et al. Among authors: kohlmuller d. Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31. Mol Genet Metab. 2024. PMID: 38302374 Free article.
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net.
Sommerburg O, Stahl M, Hämmerling S, Gramer G, Muckenthaler MU, Okun J, Kohlmüller D, Happich M, Kulozik AE, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: kohlmuller d. J Cyst Fibros. 2022 May;21(3):422-433. doi: 10.1016/j.jcf.2021.10.007. Epub 2021 Nov 9. J Cyst Fibros. 2022. PMID: 34764021 Free article.
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Monostori P, Godejohann M, Janda J, Galla Z, Rácz G, Klinke G, Szatmári I, Zsidegh P, Kohlmüller D, Kölker S, Hoffmann GF, Gramer G, Okun JG. Monostori P, et al. Among authors: kohlmuller d. Clin Biochem. 2023 Jan;111:72-80. doi: 10.1016/j.clinbiochem.2022.09.010. Epub 2022 Oct 3. Clin Biochem. 2023. PMID: 36202155
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Maier P, Jeyaweerasinkam S, Eberhard J, Soueidan L, Hämmerling S, Kohlmüller D, Feyh P, Gramer G, Garbade SF, Hoffmann GF, Okun JG, Sommerburg O. Maier P, et al. Among authors: kohlmuller d. Int J Neonatal Screen. 2024 Jan 12;10(1):5. doi: 10.3390/ijns10010005. Int J Neonatal Screen. 2024. PMID: 38248633 Free PMC article.
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M. Weidler S, et al. Among authors: kohlmuller d. J Cyst Fibros. 2016 Nov;15(6):752-758. doi: 10.1016/j.jcf.2016.07.002. Epub 2016 Jul 22. J Cyst Fibros. 2016. PMID: 27461140 Free article.
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: kohlmuller d. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823
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.
Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Among authors: kohlmuller d. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891
14 results