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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: hellwig a. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
Differential localization of coatomer complex isoforms within the Golgi apparatus.
Moelleken J, Malsam J, Betts MJ, Movafeghi A, Reckmann I, Meissner I, Hellwig A, Russell RB, Söllner T, Brügger B, Wieland FT. Moelleken J, et al. Among authors: hellwig a. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4425-30. doi: 10.1073/pnas.0611360104. Epub 2007 Mar 7. Proc Natl Acad Sci U S A. 2007. PMID: 17360540
Proteomic Profiling of Mammalian COPII and COPI Vesicles.
Adolf F, Rhiel M, Hessling B, Gao Q, Hellwig A, Béthune J, Wieland FT. Adolf F, et al. Among authors: hellwig a. Cell Rep. 2019 Jan 2;26(1):250-265.e5. doi: 10.1016/j.celrep.2018.12.041. Cell Rep. 2019. PMID: 30605680 Free article.
96 results