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Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.
PLoS One. 2024 Jun 28;19(6):e0306329. doi: 10.1371/journal.pone.0306329. eCollection 2024.
PLoS One. 2024.
PMID: 38941330
Free PMC article.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T.
Reischl-Hajiabadi AT, et al. Among authors: hegert s.
Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31.
Mol Genet Metab. 2024.
PMID: 38302374
Free article.
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High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen.
Janda J, Hegert S, Bzdok J, Tesorero R, Holtkamp U, Burggraf S, Schuhmann E, Hörster F, Hoffmann GF, Janzen N, Okun JG, Becker M, Durner J.
Janda J, et al. Among authors: hegert s.
Klin Padiatr. 2023 Nov;235(6):366-372. doi: 10.1055/a-2153-7789. Epub 2023 Sep 25.
Klin Padiatr. 2023.
PMID: 37748509
Free PMC article.
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