Okun JG - Search Results

1

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: okun jg. Int J Neonatal Screen. 2024 Feb 27;10(1):17. doi: 10.3390/ijns10010017. Int J Neonatal Screen. 2024. PMID: 38535121 Free PMC article.

2

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: okun jg. Int J Neonatal Screen. 2024 Jan 12;10(1):5. doi: 10.3390/ijns10010005. Int J Neonatal Screen. 2024. PMID: 38248633 Free PMC article.

3

Newborn screening for remethylation disorders and vitamin B₁₂ deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

Gramer G, Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Fang-Hoffmann J, Hoffmann GF, Al Rifai H, Okun JG. Gramer G, et al. Among authors: okun jg. World J Pediatr. 2017 Apr;13(2):136-143. doi: 10.1007/s12519-017-0003-z. Epub 2017 Jan 15. World J Pediatr. 2017. PMID: 28101774

4

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: okun jg. 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

5

Newborn Screening for Vitamin B₁₂ Deficiency in Germany-Strategies, Results, and Public Health Implications.

Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Mütze U, Posset R, Weiss KH, Hoffmann GF, Okun JG. Gramer G, et al. Among authors: okun jg. J Pediatr. 2020 Jan;216:165-172.e4. doi: 10.1016/j.jpeds.2019.07.052. Epub 2019 Oct 8. J Pediatr. 2020. PMID: 31604629

6

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T. Brennenstuhl H, et al. Among authors: okun jg. J Inherit Metab Dis. 2020 May;43(3):602-610. doi: 10.1002/jimd.12208. Epub 2020 Jan 6. J Inherit Metab Dis. 2020. PMID: 31849064

7

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: okun jg. Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355. Nutrients. 2023. PMID: 37571294 Free PMC article.

8

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. 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.

9

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: okun jg. 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

10

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner MR, Kölker S, Hoffmann GF, Gramer G, Okun JG. Monostori P, et al. Among authors: okun jg. PLoS One. 2017 Sep 15;12(9):e0184897. doi: 10.1371/journal.pone.0184897. eCollection 2017. PLoS One. 2017. PMID: 28915261 Free PMC article.

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