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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: weghuber d. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
Uric acid and gamma-glutamyl-transferase in children and adolescents with obesity: Association to anthropometric measures and cardiometabolic risk markers depending on pubertal stage, sex, degree of weight loss and type of patient care: Evaluation of the adiposity patient follow-up registry.
Weihrauch-Blüher S, Wiegand S, Weihe P, Prinz N, Weghuber D, Leipold G, Dannemann A, Bergjohann L, Reinehr T, Holl RW; APV study group. Weihrauch-Blüher S, et al. Among authors: weghuber d. Pediatr Obes. 2023 Mar;18(3):e12989. doi: 10.1111/ijpo.12989. Epub 2022 Nov 6. Pediatr Obes. 2023. PMID: 36336465
Once-Weekly Semaglutide in Adolescents with Obesity.
Weghuber D, Barrett T, Barrientos-Pérez M, Gies I, Hesse D, Jeppesen OK, Kelly AS, Mastrandrea LD, Sørrig R, Arslanian S; STEP TEENS Investigators. Weghuber D, et al. N Engl J Med. 2022 Dec 15;387(24):2245-2257. doi: 10.1056/NEJMoa2208601. Epub 2022 Nov 2. N Engl J Med. 2022. PMID: 36322838 Free PMC article. Clinical Trial.
Age-Related Deterioration of Mitochondrial Function in the Intestine.
Schneider AM, Özsoy M, Zimmermann FA, Feichtinger RG, Mayr JA, Kofler B, Sperl W, Weghuber D, Mörwald K. Schneider AM, et al. Among authors: weghuber d. Oxid Med Cell Longev. 2020 Aug 18;2020:4898217. doi: 10.1155/2020/4898217. eCollection 2020. Oxid Med Cell Longev. 2020. PMID: 32922652 Free PMC article. Review.
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.
Schneider AM, Özsoy M, Zimmermann FA, Brunner SM, Feichtinger RG, Mayr JA, Kofler B, Neureiter D, Klieser E, Aigner E, Schütz S, Stummer N, Sperl W, Weghuber D. Schneider AM, et al. Among authors: weghuber d. Oxid Med Cell Longev. 2022 Jan 6;2022:9151169. doi: 10.1155/2022/9151169. eCollection 2022. Oxid Med Cell Longev. 2022. PMID: 35035669 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: weghuber d. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
144 results