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2016 5
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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: jung klawitter s. Cells. 2020 Feb 19;9(2):477. doi: 10.3390/cells9020477. Cells. 2020. PMID: 32093054 Free PMC article. Review.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: jung klawitter s. J Inherit Metab Dis. 2024 Mar 18. doi: 10.1002/jimd.12723. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38499966
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: jung klawitter s. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
22 results