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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: garbade sf. 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
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice.
Weigand T, Colbatzky F, Pfeffer T, Garbade SF, Klingbeil K, Colbatzky F, Becker M, Zemva J, Bulkescher R, Schürfeld R, Thiel C, Volk N, Reuss D, Hoffmann GF, Freichel M, Hecker M, Poth T, Fleming T, Poschet G, Schmitt CP, Peters V. Weigand T, et al. Among authors: garbade sf. Int J Mol Sci. 2020 Jul 10;21(14):4887. doi: 10.3390/ijms21144887. Int J Mol Sci. 2020. PMID: 32664451 Free PMC article.
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Maier P, Jeyaweerasinkam S, Eberhard J, Soueidan L, Hämmerling S, Kohlmüller D, Feyh P, Gramer G, Garbade SF, Hoffmann GF, Okun JG, Sommerburg O. Maier P, et al. Among authors: garbade sf. Int J Neonatal Screen. 2024 Jan 12;10(1):5. doi: 10.3390/ijns10010005. Int J Neonatal Screen. 2024. PMID: 38248633 Free PMC article.
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: garbade sf. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium. Buerger C, et al. Among authors: garbade sf. J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22. J Inherit Metab Dis. 2019. PMID: 30671983 Free PMC article.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Posset R, et al. Among authors: garbade sf. J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031. J Inherit Metab Dis. 2019. PMID: 30740724 Free PMC article.
110 results