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Page 1
Newborn screening of metabolic disorders.
Arélin M, Beblo S. Arélin M, et al. Among authors: beblo s. J Pediatr Endocrinol Metab. 2016 Jan;29(1):1-3. doi: 10.1515/jpem-2015-0456. J Pediatr Endocrinol Metab. 2016. PMID: 26756088 Free article. No abstract available.
PKU patients on a relaxed diet may be at risk for micronutrient deficiencies.
Rohde C, von Teeffelen-Heithoff A, Thiele AG, Arelin M, Mütze U, Kiener C, Gerloff J, Baerwald C, Schultz S, Heller C, Müller AS, Kiess W, Beblo S. Rohde C, et al. Among authors: beblo s. Eur J Clin Nutr. 2014 Jan;68(1):119-24. doi: 10.1038/ejcn.2013.218. Epub 2013 Nov 20. Eur J Clin Nutr. 2014. PMID: 24253763
Growth and Final Height Among Children With Phenylketonuria.
Thiele AG, Gausche R, Lindenberg C, Beger C, Arelin M, Rohde C, Mütze U, Weigel JF, Mohnike K, Baerwald C, Scholz M, Kiess W, Pfäffle R, Beblo S. Thiele AG, et al. Among authors: beblo s. Pediatrics. 2017 Nov;140(5):e20170015. doi: 10.1542/peds.2017-0015. Pediatrics. 2017. PMID: 29089407
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: beblo s. J Inherit Metab Dis. 2021 Jul;44(4):857-870. doi: 10.1002/jimd.12364. Epub 2021 Feb 7. J Inherit Metab Dis. 2021. PMID: 33496032
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: beblo s. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. doi: 10.1002/jimd.12653. Epub 2023 Jul 23. J Inherit Metab Dis. 2023. PMID: 37429829
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: beblo s. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
66 results