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New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
Gramer G, Wortmann SB, Fang-Hoffmann J, Kohlmüller D, Okun JG, Prokisch H, Meitinger T, Hoffmann GF. Gramer G, et al. Among authors: fang hoffmann j. Int J Neonatal Screen. 2024 Feb 27;10(1):17. doi: 10.3390/ijns10010017. Int J Neonatal Screen. 2024. PMID: 38535121 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
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade SF, Hoffmann GF, Okun JG, Mütze U. Schnabel E, et al. Among authors: fang hoffmann j. Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355. Nutrients. 2023. PMID: 37571294 Free PMC article.
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
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
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care.
Gramer G, Brockow I, Labitzke C, Fang-Hoffmann J, Beivers A, Feyh P, Hoffmann GF, Nennstiel U, Sommerburg O. Gramer G, et al. Among authors: fang hoffmann j. Eur J Pediatr. 2021 Apr;180(4):1145-1155. doi: 10.1007/s00431-020-03849-4. Epub 2020 Oct 26. Eur J Pediatr. 2021. PMID: 33104872 Free PMC article.
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