The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

BACKGROUND: We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and serum im...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196455/
https://ncbi.nlm.nih.gov/pubmed/32067425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1172
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