Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a female patient with biallelic pathogenic mutations...

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Detalles Bibliográficos
Autores principales: De Graef, Diederik, Mousa, Jehan, Waberski, Marta Biderman, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
New therapies in inborn errors of metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032425/
https://www.ncbi.nlm.nih.gov/pubmed/37180423
http://dx.doi.org/10.1177/26330040221091283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032425/
https://www.ncbi.nlm.nih.gov/pubmed/37180423
http://dx.doi.org/10.1177/26330040221091283

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