Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema

BACKGROUND: Hereditary angioedema (HAE) with C1‐inhibitor deficiency (C1‐INH‐HAE) is a rare disease caused by low level (type I) or dysfunction (type II) of the C1‐inhibitor protein with subsequent reduction of certain complement protein levels. METHODS: To develop and test the reliability of a two‐...

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Detalles Bibliográficos
Autores principales: Iuraşcu, Marius‐Ionuţ, Balla, Zsuzsanna, Pereira, Catarina, Andrási, Noémi, Varga, Lilian, Csuka, Dorottya, Szilágyi, Ágnes, Tripolszki, Kornelia, Khan, Suliman, Susnea, Iuliana, Bauer, Peter, Cozma, Claudia, Farkas, Henriette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10668000/
https://www.ncbi.nlm.nih.gov/pubmed/38006386
http://dx.doi.org/10.1002/clt2.12317

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