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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10.
Ann Clin Transl Neurol. 2022.
PMID: 36217298
Free PMC article.
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: druck ac.
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.
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ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.
Seidl MJ, Scharre S, Posset R, Druck AC, Epp F, Okun JG, Dimitrov B, Hoffmann GF, Kölker S, Zielonka M.
Seidl MJ, et al. Among authors: druck ac.
Mol Genet Metab. 2024 Jan;141(1):108097. doi: 10.1016/j.ymgme.2023.108097. Epub 2023 Nov 28.
Mol Genet Metab. 2024.
PMID: 38113552
Free article.
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Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Posset R, et al. Among authors: druck ac.
Mol Genet Metab. 2024 Mar;141(3):108112. doi: 10.1016/j.ymgme.2023.108112. Epub 2023 Dec 10.
Mol Genet Metab. 2024.
PMID: 38301530
Free article.
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