Výsledky vyhledávání - "Lucia Giudugli"

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

Autor: Lucia Giudugli, Matthew N. Bainbridge, Marilyn C. Jones, Matthew T. Brigger, Monia Hammer, Stephen F. Kingsmore, Erica Sanford, David Dimmock

Publikováno v: Cold Spring Harbor Molecular Case Studies

Biallelic variants in inorganic pyrophosphatase 2 (PPA2) are known to cause infantile sudden cardiac failure (OMIM #617222), but relatively little is known about phenotypic variability of these patients prior to their death. We report a 5-wk-old male

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774ad2ebf4bf35bdfed53b23af8c423f
https://pubmed.ncbi.nlm.nih.gov/33028643

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání