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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: garbade sf. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May-August 2020.
Stich M, Elling R, Renk H, Janda A, Garbade SF, Müller B, Kräusslich HG, Fabricius D, Zernickel M, Meissner P, Huzly D, Grulich-Henn J, Haddad A, Görne T, Spielberger B, Fritsch L, Nieters A, Hengel H, Dietz AN, Stamminger T, Ganzenmueller T, Ruetalo N, Peter A, Remppis J, Iftner T, Jeltsch K, Waterboer T, Franz AR, Hoffmann GF, Engel C, Debatin KM, Tönshoff B, Henneke P. Stich M, et al. Among authors: garbade sf. Emerg Infect Dis. 2021 Dec;27(12):3009-3019. doi: 10.3201/eid2712.210978. Epub 2021 Oct 25. Emerg Infect Dis. 2021. PMID: 34695369 Free PMC article.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: garbade sf. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M. Haas D, et al. Among authors: garbade sf. J Med Genet. 2007 May;44(5):298-305. doi: 10.1136/jmg.2006.047258. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237122 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
110 results