BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 28803808)

  • 1. 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]  

  • 2. Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
    Mojzikova R; Koralkova P; Holub D; Zidova Z; Pospisilova D; Cermak J; Striezencova Laluhova Z; Indrak K; Sukova M; Partschova M; Kucerova J; Horvathova M; Divoky V
    Br J Haematol; 2014 May; 165(4):556-63. PubMed ID: 24533562
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).
    Beutler E; West C; Britton HA; Harris J; Forman L
    Blood Cells Mol Dis; 1997 Dec; 23(3):402-9. PubMed ID: 9446754
    [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. 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]  

  • 10. 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]  

  • 11. Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation.
    Repiso A; Oliva B; Vives Corrons JL; Carreras J; Climent F
    Biochim Biophys Acta; 2005 Jun; 1740(3):467-71. PubMed ID: 15949716
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.
    Holme S; van Wijk R; Rasmussen AØ; Petersen J; Glenthøj A
    J Med Case Rep; 2024 Mar; 18(1):130. PubMed ID: 38539245
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. [Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia].
    Shalev O; Leibowitz G; Brok-Simoni F
    Harefuah; 1994 Jun; 126(12):699-702, 764, 763. PubMed ID: 7927011
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.
    Burger NCM; van Wijk R; Bresters D; Schell EA
    J Pediatr Hematol Oncol; 2019 Apr; 41(3):e186-e189. PubMed ID: 30585945
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.
    Clarke JL; Vulliamy TJ; Roper D; Mesbah-Namin SA; Wild BJ; Walker JI; Will AM; Bolton-Maggs PH; Mason PJ; Layton DM
    Blood Cells Mol Dis; 2003; 30(3):258-63. PubMed ID: 12737943
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.