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

Abstract 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, lymphop...

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Veröffentlicht in:	Journal of Crohn's and colitis 2020-01, Vol.14 (1), p.142-147
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital Bone Marrow Failure Syndromes - complications Crohn Disease - diagnosis Crohn Disease - etiology Crohn Disease - therapy Glycogen Storage Disease Type I - complications Hematopoietic Stem Cell Transplantation Humans Male Neutropenia - complications Neutropenia - congenital Short Report Young Adult
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