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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Among authors: hoffmann gf. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium. Buerger C, et al. J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22. J Inherit Metab Dis. 2019. PMID: 30671983 Free PMC article.
Waning Immunity 14 Months After SARS-CoV-2 Infection.
Stich M, Benning L, Speer C, Garbade SF, Bartenschlager M, Kim H, Gleich F, Jeltsch K, Haase B, Janda A, Renk H, Elling R, Schnitzler P, Waterboer T, Hoffmann GF, Kräusslich HG, Müller B, Bartenschlager R, Tönshoff B. Stich M, et al. Among authors: hoffmann gf. Pediatrics. 2022 Nov 1;150(5):e2022057151. doi: 10.1542/peds.2022-057151. Pediatrics. 2022. PMID: 35953884 No abstract available.
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: hoffmann gf. 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
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: hoffmann gf. 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
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
Posset R, Zielonka M, Gleich F, Garbade SF, Hoffmann GF, Kölker S; Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2023 Nov;46(6):1007-1016. doi: 10.1002/jimd.12678. Epub 2023 Oct 10. J Inherit Metab Dis. 2023. PMID: 37702610 Review.
599 results