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

BACKGROUND: Zellweger 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 disabili...

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Detalles Bibliográficos
Autores principales: Fazi, C., Lodi, L., Magi, L., Canessa, C., Giovannini, M., Pelosi, C., Pochiero, F., Procopio, E., Donati, M. A., Azzari, C., Ricci, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990230/
https://www.ncbi.nlm.nih.gov/pubmed/35402347
http://dx.doi.org/10.3389/fped.2022.852943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8990230/
https://www.ncbi.nlm.nih.gov/pubmed/35402347
http://dx.doi.org/10.3389/fped.2022.852943

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