Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD). A distinct clinical syndrome of hyperinsulinism and autosomal recessive polycystic kidney disease (HIPKD) arises in the con...

Descripción completa

Detalles Bibliográficos
Autores principales: Kiparissi, Fevronia, Dastamani, Antonia, Palm, Liina, Azabdaftari, Aline, Campos, Luis, Gaynor, Edward, Grünewald, Stephanie, Uhlig, Holm H., Kleta, Robert, Böckenhauer, Detlef, Jones, Kelsey D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10181953/
https://www.ncbi.nlm.nih.gov/pubmed/36773065
http://dx.doi.org/10.1007/s00439-023-02523-7

Ejemplares similares

Ejemplares similares