Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency

• Glavni autori: C. Fazi (Autor), L. Lodi (Autor), L. Magi (Autor), C. Canessa (Autor), M. Giovannini (Autor), C. Pelosi (Autor), F. Pochiero (Autor), E. Procopio (Autor), M. A. Donati (Autor), C. Azzari (Autor), S. Ricci (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

BackgroundZellweger syndrome (ZS) is a congenital autosomal recessive disease within the spectrum of peroxisome biogenesis disorders, characterized by the impairment of peroxisome assembly. The presence of peroxisome enzyme deficiencies leads to complex developmental sequelae, progressive disabiliti...