Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b
- PMID: 3025513
- DOI: 10.1007/BF01799669
Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b
Similar articles
-
[Glucose-6-phosphate translocase deficiency--glycogen storage disease type 1 b].Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):813-6. Tanpakushitsu Kakusan Koso. 1988. PMID: 2855954 Japanese. No abstract available.
-
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.Eur J Pediatr. 2004 Apr;163(4-5):202-6. doi: 10.1007/s00431-004-1405-1. Epub 2004 Feb 11. Eur J Pediatr. 2004. PMID: 14872340
-
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.J Korean Med Sci. 2005 Jun;20(3):499-501. doi: 10.3346/jkms.2005.20.3.499. J Korean Med Sci. 2005. PMID: 15953877 Free PMC article.
-
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.Eur J Pediatr. 2005 Aug;164(8):501-8. doi: 10.1007/s00431-005-1657-4. Epub 2005 May 19. Eur J Pediatr. 2005. PMID: 15906092 Review.
-
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.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 Review.
Cited by
-
Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b.Eur J Pediatr. 1993;152 Suppl 1:S39-43. doi: 10.1007/BF02072086. Eur J Pediatr. 1993. PMID: 8319725 Review.
-
Secondary amyloidosis in glycogen storage disease type Ib.Eur J Pediatr. 1990 Feb;149(5):344-5. doi: 10.1007/BF02171563. Eur J Pediatr. 1990. PMID: 2311631
-
Type Ib glycogenosis.Indian J Pediatr. 1997 Jul-Aug;64(4):557-60. doi: 10.1007/BF02737768. Indian J Pediatr. 1997. PMID: 10771888
-
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8. Glycobiology. 2011. PMID: 21385794 Free PMC article.
-
Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b.J Clin Invest. 1990 Jul;86(1):196-202. doi: 10.1172/JCI114684. J Clin Invest. 1990. PMID: 2164043 Free PMC article.
References
MeSH terms
Substances
LinkOut - more resources
Full Text Sources