Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

Autor: Gajja S. Salomons, Arthur van den Wijngaard, Jan F. C. Glatz, Ingrid P.C. Krapels, Jörgen Bierau, Appolonia T J M Helderman-van den Enden, Mark R. Hazebroek, Liesbeth van der Ploeg, Sacha Ferdinandusse, Stephane Heymans, Moniek Riemersma, Han G. Brunner, Martijn C. G. J. Brouwers

Publikováno v: European journal of human genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1195-1201. Nature Publishing Group
European Journal of Human Genetics, 25, 11, pp. 1195-1201
Riemersma, M, Hazebroek, M R, Helderman-Van Den Enden, A T J M, Salomons, G S, Ferdinandusse, S, Brouwers, M C G J, Van Der Ploeg, L, Heymans, S, Glatz, J F C, Van Den Wijngaard, A, Krapels, I P C, Bierau, J & Brunner, H G 2017, ' Propionic acidemia as a cause of adult-onset dilated cardiomyopathy ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1195-1201 . https://doi.org/10.1038/ejhg.2017.127
European Journal of Human Genetics, 25, 1195-1201

Contains fulltext : 182645.pdf (Publisher’s version ) (Open Access) Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d54db90e4fe24bd64d8b28227f928d
https://doi.org/10.1038/ejhg.2017.127