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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2020 | 1 |
2023 | 1 |
2024 | 3 |
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Page 1
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18.
J Inherit Metab Dis. 2024.
PMID: 38499966
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Brennenstuhl H, Didiasova M, Assmann B, Bertoldi M, Molla G, Jung-Klawitter S, Kuseyri Hübschmann O, Schröter J, Opladen T, Tikkanen R.
Brennenstuhl H, et al.
Int J Mol Sci. 2020 Nov 13;21(22):8578. doi: 10.3390/ijms21228578.
Int J Mol Sci. 2020.
PMID: 33203024
Free PMC article.
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Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models.
Didiasova M, Banning A, Tikkanen R.
Didiasova M, et al.
J Inherit Metab Dis. 2024 May;47(3):509-516. doi: 10.1002/jimd.12674. Epub 2023 Aug 30.
J Inherit Metab Dis. 2024.
PMID: 37606592
Review.
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Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
Didiasova M, Cesaro S, Feldhoff S, Bettin I, Tiegel N, Füssgen V, Bertoldi M, Tikkanen R.
Didiasova M, et al.
Int J Mol Sci. 2024 May 11;25(10):5237. doi: 10.3390/ijms25105237.
Int J Mol Sci. 2024.
PMID: 38791277
Free PMC article.
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