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Page 1
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Didiášová M, et al. Among authors: brennenstuhl h. Cells. 2020 Feb 19;9(2):477. doi: 10.3390/cells9020477. Cells. 2020. PMID: 32093054 Free PMC article. Review.
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.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). Brennenstuhl H, et al. J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28. J Inherit Metab Dis. 2021. PMID: 34145613
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Keller M, et al. Among authors: brennenstuhl h. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2. J Inherit Metab Dis. 2021. PMID: 34245036 Free article.
Unmet Needs of Parents of Children with Urea Cycle Disorders.
Scharping M, Brennenstuhl H, Garbade SF, Wild B, Posset R, Zielonka M, Kölker S, Haun MW, Opladen T. Scharping M, et al. Among authors: brennenstuhl h. Children (Basel). 2022 May 12;9(5):712. doi: 10.3390/children9050712. Children (Basel). 2022. PMID: 35626889 Free PMC article.
32 results