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Congenital disorders of glycosylation with defective fucosylation.
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger RG, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer KM, Santer R, Herget T, Rennings A, Lefeber DJ, Mayr JA, Thiel C, Wortmann SB. Hüllen A, et al. Among authors: weigel c. J Inherit Metab Dis. 2021 Nov;44(6):1441-1452. doi: 10.1002/jimd.12426. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34389986
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB. Iuso A, et al. Among authors: weigel c. JIMD Rep. 2019;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20. JIMD Rep. 2019. PMID: 29923093 Free PMC article.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. Among authors: weigel c. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
179 results