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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra… See abstract for full author list ➔ McHugh D, et al. Among authors: kohlmueller d. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
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.
Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, Kulozik AE, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: kohlmueller d. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S263-71. doi: 10.1007/s10545-010-9174-7. Epub 2010 Aug 17. J Inherit Metab Dis. 2010. PMID: 20714932
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: kohlmueller d. J Cyst Fibros. 2014 Jan;13(1):15-23. doi: 10.1016/j.jcf.2013.06.003. Epub 2013 Jul 25. J Cyst Fibros. 2014. PMID: 23891278 Free article.
Mild trimethylaminuria caused by common variants in FMO3 gene.
Zschocke J, Kohlmueller D, Quak E, Meissner T, Hoffmann GF, Mayatepek E. Zschocke J, et al. Among authors: kohlmueller d. Lancet. 1999 Sep 4;354(9181):834-5. doi: 10.1016/s0140-6736(99)80019-1. Lancet. 1999. PMID: 10485731
Postnatal changes in neonatal acylcarnitine profile.
Meyburg J, Schulze A, Kohlmueller D, Linderkamp O, Mayatepek E. Meyburg J, et al. Among authors: kohlmueller d. Pediatr Res. 2001 Jan;49(1):125-9. doi: 10.1203/00006450-200101000-00024. Pediatr Res. 2001. PMID: 11134502