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5. Erythrocyte pyruvate kinase- and glucose phosphate isomerase deficiency: perturbation of glycolysis by structural defects and functional alterations of defective enzymes and its relation to the clinical severity of chronic hemolytic anemia. Lakomek M; Winkler H Biophys Chem; 1997 Jun; 66(2-3):269-84. PubMed ID: 9362562 [TBL] [Abstract][Full Text] [Related]
6. Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study. Manco L; Bento C; Victor BL; Pereira J; Relvas L; Brito RM; Seabra C; Maia TM; Ribeiro ML Blood Cells Mol Dis; 2016 Sep; 60():18-23. PubMed ID: 27519939 [TBL] [Abstract][Full Text] [Related]
7. Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report. Zu Y; Wang H; Lin W; Zou C BMC Pediatr; 2022 Aug; 22(1):461. PubMed ID: 35915427 [TBL] [Abstract][Full Text] [Related]
8. Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. Kedar PS; Dongerdiye R; Chilwirwar P; Gupta V; Chiddarwar A; Devendra R; Warang P; Prasada H; Sampagar A; Bhat S; Chandrakala S; Madkaikar M Indian J Pediatr; 2019 Aug; 86(8):692-699. PubMed ID: 31030358 [TBL] [Abstract][Full Text] [Related]
9. Human glucose phosphate isomerase: exon mapping and gene structure. Xu W; Lee P; Beutler E Genomics; 1995 Oct; 29(3):732-9. PubMed ID: 8575767 [TBL] [Abstract][Full Text] [Related]
10. Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin. Mojzikova R; Koralkova P; Holub D; Saxova Z; Pospisilova D; Prochazkova D; Dzubak P; Horvathova M; Divoky V Blood Cells Mol Dis; 2018 Mar; 69():23-29. PubMed ID: 28803808 [TBL] [Abstract][Full Text] [Related]
11. Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia. Repiso A; Oliva B; Vives-Corrons JL; Beutler E; Carreras J; Climent F Hum Mutat; 2006 Nov; 27(11):1159. PubMed ID: 17041899 [TBL] [Abstract][Full Text] [Related]
13. Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency. Xi BX; Liu SY; Xu YT; Zhang DD; Hu Q; Liu AG Curr Med Sci; 2024 Apr; 44(2):426-434. PubMed ID: 38561594 [TBL] [Abstract][Full Text] [Related]
14. Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. Eber SW; Gahr M; Lakomek M; Prindull G; Schröter W Blut; 1986 Jul; 53(1):21-8. PubMed ID: 3719111 [TBL] [Abstract][Full Text] [Related]
15. A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO). Galand C; Torres M; Boivin P; Bourgeaud JP Scand J Haematol; 1978 Jan; 20(1):77-84. PubMed ID: 625628 [TBL] [Abstract][Full Text] [Related]
17. Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis. Kahn A; Buc HA; Girot R; Cottreau D; Griscelli C Hum Genet; 1978 Feb; 40(3):293-304. PubMed ID: 631848 [TBL] [Abstract][Full Text] [Related]
18. Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene. Warang P; Kedar P; Ghosh K; Colah RB Int J Hematol; 2012 Aug; 96(2):263-7. PubMed ID: 22782259 [TBL] [Abstract][Full Text] [Related]
19. Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report. Sampagar A; Gosavi M; Kedar P; Patel T; Dongerdiye R; Mahantashetti N Int J Hematol; 2022 Feb; 115(2):255-262. PubMed ID: 34704234 [TBL] [Abstract][Full Text] [Related]
20. Haemolytic anaemia associated with glucosephosphate isomerase (GPI) deficiency in a Black South African child. Cayanis E; Penfold GK; Freiman I; MacDougall LG Br J Haematol; 1977 Nov; 37(3):363-71. PubMed ID: 603768 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]