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Page 1
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.
Dello Strologo L, Spada M, Vici CD, Atti MCD, Rheault M, Bjerre AK, Boyer O, Calvo PL, D'Antiga L, Harshman LA, Hörster F, Kölker S, Jahnukainen T, Knops N, Krug P, Krupka K, Lee A, Levtchenko E, Marks SD, Stojanovic J, Martelli L, Mazariegos G, Montini G, Shenoy M, Sidhu S, Spada M, Tangeras T, Testa S, Vijay S, Wac K, Wennberg L, Concepcion W, Garbade SF, Tönshoff B. Dello Strologo L, et al. Among authors: garbade sf. Mol Genet Metab. 2022 Nov;137(3):265-272. doi: 10.1016/j.ymgme.2022.09.010. Epub 2022 Oct 3. Mol Genet Metab. 2022. PMID: 36240580
Identification of PMD subgroups using a myelination score for PMD.
Harting I, Garbade SF, Rosendaal SD, Mohr A, Sherbini O, Vanderver A, Wolf NI. Harting I, et al. Among authors: garbade sf. Eur J Paediatr Neurol. 2022 Nov;41:71-79. doi: 10.1016/j.ejpn.2022.10.003. Epub 2022 Nov 4. Eur J Paediatr Neurol. 2022. PMID: 36368233 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.
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
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: garbade sf. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
124 results