Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review

We report the case of a 2-year-old girl who was diagnosed with Mannose-6-phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) and provide a review of the relevant literature. The young girl presented with recurrent unexplained diarrhea, vomiting, hypoproteinemia, and elevated liver tra...

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Detalles Bibliográficos
Autores principales: Lu, Siliang, Liang, Shuheng, Wu, Yi, Liu, Jinyi, Lin, Lin, Huang, Guosheng, Ning, Huaijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130505/
https://www.ncbi.nlm.nih.gov/pubmed/37124179
http://dx.doi.org/10.3389/fped.2023.1150367

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130505/
https://www.ncbi.nlm.nih.gov/pubmed/37124179
http://dx.doi.org/10.3389/fped.2023.1150367

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