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

Autor: Federico Roncaroli, Christian J. Hendriksz, Graham Radcliffe, Kinza Noman, Sulleman Moreea, Karolina M. Stepien, Afifah Hussain

Publikováno v: Molecular Genetics and Metabolism Reports
Noman, K, Hendriksz, C J, Radcliffe, G, Roncaroli, F, Moreea, S, Hussain, A & Stepien, K M 2020, ' Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy ', Molecular Genetics and Metabolism Reports, vol. 25, pp. 100646 . https://doi.org/10.1016/j.ymgmr.2020.100646
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100646-(2020)

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e89da12b76a43da3a98b15233df6bb
http://europepmc.org/articles/PMC7490551

Long-term follow-up in an adult patient with Schindler disease

Autor: Kinza Noman, Alexander Broomfield, Jill Clayton-Smith, Heather Church, Karolina M. Stepien

Publikováno v: Molecular Genetics and Metabolism. 135:S89

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8967647b66b32d14f334f08c46e8b05
https://doi.org/10.1016/j.ymgme.2021.11.230