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Page 1
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: hennermann jb. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945
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. Pediatrics. 2020 Nov;146(5):e20200444. doi: 10.1542/peds.2020-0444. Epub 2020 Oct 13. Pediatrics. 2020. PMID: 33051224
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: hennermann jb. 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
Issues with European guidelines for phenylketonuria.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Burgard P, et al. Among authors: hennermann jb. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. Lancet Diabetes Endocrinol. 2017. PMID: 28842158 No abstract available.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: hennermann jb. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: hennermann jb. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.
119 results