Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis, digestive symptoms and coagulation abnormalities....

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Detalles Bibliográficos
Autores principales: Noman, Kinza, Hendriksz, Christian J., Radcliffe, Graham, Roncaroli, Federico, Moreea, Sulleman, Hussain, Afifah, Stepien, Karolina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490551/
https://www.ncbi.nlm.nih.gov/pubmed/32963965
http://dx.doi.org/10.1016/j.ymgmr.2020.100646

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