Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation

The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the case of a 1-year-...

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Detalles Bibliográficos
Autores principales: Semenova, Natalia, Shatokhina, Olga, Shchagina, Olga, Kamenec, Elena, Marakhonov, Andrey, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140882/
https://www.ncbi.nlm.nih.gov/pubmed/37108612
http://dx.doi.org/10.3390/ijms24087449

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140882/
https://www.ncbi.nlm.nih.gov/pubmed/37108612
http://dx.doi.org/10.3390/ijms24087449

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