These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. Huppke P; Wünsch D; Pekrun A; Kind R; Winkler H; Schröter W; Lakomek M Eur J Pediatr; 1997 Aug; 156(8):605-9. PubMed ID: 9266190 [TBL] [Abstract][Full Text] [Related]
9. Glucose-6-phosphate isomerase deficiency. Kugler W; Lakomek M Baillieres Best Pract Res Clin Haematol; 2000 Mar; 13(1):89-101. PubMed ID: 10916680 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
14. Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease. Merkle S; Pretsch W Blood; 1993 Jan; 81(1):206-13. PubMed ID: 8417789 [TBL] [Abstract][Full Text] [Related]
16. Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Kugler W; Breme K; Laspe P; Muirhead H; Davies C; Winkler H; Schröter W; Lakomek M Hum Genet; 1998 Oct; 103(4):450-4. PubMed ID: 9856489 [TBL] [Abstract][Full Text] [Related]
17. Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden. Neubauer BA; Eber SW; Lakomek M; Gahr M; Schröter W Acta Haematol; 1990; 83(4):206-10. PubMed ID: 2115718 [TBL] [Abstract][Full Text] [Related]
18. Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies. Repiso A; Ramirez Bajo MJ; Corrons JL; Carreras J; Climent F Haematologica; 2005 Feb; 90(2):257-9. PubMed ID: 15710582 [TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant. Jamwal M; Aggarwal A; Das A; Maitra A; Sharma P; Krishnan S; Arora N; Bansal D; Das R Clin Chim Acta; 2017 May; 468():81-84. PubMed ID: 28223188 [TBL] [Abstract][Full Text] [Related]
20. Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. See WQ; So CJ; Cheuk DK; van Wijk R; Ha SY J Pediatr Hematol Oncol; 2020 Oct; 42(7):e696-e697. PubMed ID: 31415279 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]