Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Stefanie Beck-Woedel"'
Autor:
Tobias B. Haack, Felix Distelmaier, Penelope E. Bonnen, Parag M Tamhankar, Pascal Joset, Anita Rauch, Amelie J. Müller, Karim Daliri, Katharina Steindl, Gessica Vasco, Imke Kienzle, Samuel Groeschel, Annette Seibt, S. Leiz, Rebecca Buchert, Ingeborg Krägeloh-Mann, Susana Peralta, Ertan Mayatepek, Vasundhara Tamhankar, Ruth Falb, Ahmet Okay Caglayan, Matias Wagner, Pegah Katibeh, Diran Herebian, Lucia Laugwitz, Jan Kern, Robert Steinfeld, Darja Gauck, Margit Burmeister, Tawfiq Froukh, Hakan Gümüş, Diego Martinelli, Fabian Baertling, Stefanie Beck-Woedel, Katharina Danhauser, Mona Grimmel, Viola Alesi
Publikováno v:
J. Med. Genet. 59, 878–887 (2022)
J Med Genet
J Med Genet
BackgroundHuman coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency.M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d760564b3657f43ae9c7926a5f7da3
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63760
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63760