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Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. Among authors: fang hoffmann j. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.
Lindner M, Abdoh G, Fang-Hoffmann J, Shabeck N, Al-Sayrafi M, Al-Janahi M, Ho S, Abdelrahman MO, Ben-Omran T, Bener A, Schulze A, Al-Rifai H, Al-Thani G, Hoffmann GF. Lindner M, et al. J Inherit Metab Dis. 2007 Aug;30(4):522-9. doi: 10.1007/s10545-007-0553-7. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17510756
Genetic cause and prevalence of hydroxyprolinemia.
Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S. Staufner C, et al. J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2. J Inherit Metab Dis. 2016. PMID: 27139199
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
Okun JG, Gan-Schreier H, Ben-Omran T, Schmidt KV, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal AL, Haege G, Chiang CC, Kasper DC, Wilcken B, Burgard P, Hoffmann GF. Okun JG, et al. Among authors: fang hoffmann j. JIMD Rep. 2017;32:87-94. doi: 10.1007/8904_2016_556. Epub 2016 Jun 21. JIMD Rep. 2017. PMID: 27325427 Free PMC article.
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Okun JG, Hoffmann GF. Gramer G, et al. Among authors: fang hoffmann j. World J Pediatr. 2018 Oct;14(5):470-481. doi: 10.1007/s12519-018-0159-1. Epub 2018 Jun 15. World J Pediatr. 2018. PMID: 29948967
17 results