Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and...

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Detalles Bibliográficos
Autores principales: Bolton, Chrissy, Burch, Nicola, Morgan, James, Harrison, Beth, Pandey, Sumeet, Pagnamenta, Alistair T, Taylor, Jenny C, Taylor, John M, Marsh, Judith C W, Potter, Victoria, Travis, Simon, Uhlig, Holm H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930000/
https://www.ncbi.nlm.nih.gov/pubmed/31157858
http://dx.doi.org/10.1093/ecco-jcc/jjz112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930000/
https://www.ncbi.nlm.nih.gov/pubmed/31157858
http://dx.doi.org/10.1093/ecco-jcc/jjz112

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