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MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
J Inherit Metab Dis. 2024 Sep;47(5):1028-1046. doi: 10.1002/jimd.12764. Epub 2024 Jul 1.
J Inherit Metab Dis. 2024.
PMID: 38951950
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
Peters B, Dattner T, Schlieben LD, Sun T, Staufner C, Lenz D.
Peters B, et al. Among authors: dattner t.
J Inherit Metab Dis. 2025 Jan;48(1):e12707. doi: 10.1002/jimd.12707. Epub 2024 Jan 27.
J Inherit Metab Dis. 2025.
PMID: 38279772
Free PMC article.
Review.
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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H.
Schröter J, et al. Among authors: dattner t.
Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023.
Comput Struct Biotechnol J. 2023.
PMID: 36789265
Free PMC article.
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Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.
Goetz M, Schröter J, Dattner T, Brennenstuhl H, Lenz D, Opladen T, Hörster F, Okun JG, Hoffmann GF, Kölker S, Staufner C.
Goetz M, et al. Among authors: dattner t.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):18-25. doi: 10.1016/j.ymgme.2022.07.007. Epub 2022 Jul 11.
Mol Genet Metab. 2022.
PMID: 35868242
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