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Page 1
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review.
Gitzelmann R, Bosshard NU. Gitzelmann R, et al. Eur J Pediatr. 1993;152 Suppl 1:S33-8. doi: 10.1007/BF02072085. Eur J Pediatr. 1993. PMID: 8391445 Review.
A summary review of leukocyte function in 42 published cases of glycogen storage disease Ib is presented. Polymorphonuclear and monocyte dysfunctions were evidenced in the majority of cases, whereas lymphocytes appeared to be unaffected. ...
A summary review of leukocyte function in 42 published cases of glycogen storage disease Ib is presented. Polymo …
Pregnancy in women with glycogen storage disease Ia and Ib.
Ferrecchia IA, Guenette G, Potocik EA, Weinstein DA. Ferrecchia IA, et al. J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017. J Perinat Neonatal Nurs. 2014. PMID: 24476649 Review.
As metabolic control has improved, morbidity has decreased. Glycogen storage disease Ib has the same severity of hypoglycemia as GSD Ia, with associated immune disturbance. ...
As metabolic control has improved, morbidity has decreased. Glycogen storage disease Ib has the same severity of …
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
Neutrophil dysfunction in glycogen storage disease Ib: association with Crohn's-like colitis.
Couper R, Kapelushnik J, Griffiths AM. Couper R, et al. Gastroenterology. 1991 Feb;100(2):549-54. doi: 10.1016/0016-5085(91)90229-e. Gastroenterology. 1991. PMID: 1985051 Review.
The neutrophil dysfunction observed in glycogen storage disease Ib is the most likely predisposing factor. ...The recent recognition of chronic inflammatory bowel disease in glycogen storage disease Ib, as well as in chronic …
The neutrophil dysfunction observed in glycogen storage disease Ib is the most likely predisposing factor. ...Th …