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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 1
2011 1
2015 1
2016 2
2017 2
2018 1
2019 1
2020 3
2021 2
2023 2
2024 1

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15 results

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Page 1
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
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.
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. Among authors: fang hoffmann j. 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
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Mütze U, Garbade SF, Gramer G, Lindner M, Freisinger P, Grünert SC, Hennermann J, Ensenauer R, Thimm E, Zirnbauer J, Leichsenring M, Gleich F, Hörster F, Grohmann-Held K, Boy N, Fang-Hoffmann J, Burgard P, Walter M, Hoffmann GF, Kölker S. Mütze U, et al. Among authors: fang hoffmann j. Pediatrics. 2020 Nov;146(5):e20200444. doi: 10.1542/peds.2020-0444. Epub 2020 Oct 13. Pediatrics. 2020. PMID: 33051224
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.
Molecular neonatal screening for homocystinuria in the Qatari population.
Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF. Zschocke J, et al. Among authors: fang hoffmann j. Hum Mutat. 2009 Jun;30(6):1021-2. doi: 10.1002/humu.20994. Hum Mutat. 2009. PMID: 19370759
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.
15 results