Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients()

BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older children and adults. Although the mechanism of cardiomyopathy is not known, previous...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab
Autors principals: Brofferio, Alessandra, Sachdev, Vandana, Hannoush, Hwaida, Marshall, Jan D., Naggert, Jürgen K., Sidenko, Stanislav, Noreuil, Anna, Sirajuddin, Arlene, Bryant, Joy, Han, Joan C., Arai, Andrew E., Gahl, William A., Gunay-Aygun, Meral
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5555226/
https://ncbi.nlm.nih.gov/pubmed/28610912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.05.017
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