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Page 1
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: baertling f. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
Liver cirrhosis in glycogen storage disease Ib.
Baertling F, Mayatepek E, Gerner P, Baba HA, Franzel J, Schlune A, Meissner T. Baertling F, et al. Mol Genet Metab. 2013 Mar;108(3):198-200. doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11. Mol Genet Metab. 2013. PMID: 23357201
Hypertrichosis in presymptomatic mitochondrial disease.
Baertling F, Mayatepek E, Distelmaier F. Baertling F, et al. J Inherit Metab Dis. 2013 Nov;36(6):1081-2. doi: 10.1007/s10545-013-9593-3. Epub 2013 Feb 14. J Inherit Metab Dis. 2013. PMID: 23408181
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F. Holzerova E, et al. Among authors: baertling f. Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1. Brain. 2016. PMID: 26626369
30 results