BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 30585945)

  • 1. 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]  

  • 2. 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]  

  • 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. 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 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]  

  • 6. 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]  

  • 7. Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia.
    Arnold H; Hasslinger K; Witt I
    Blut; 1983 May; 46(5):271-7. PubMed ID: 6839028
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme.
    Isacchi G; Cottreau D; Mandelli F; Papa G; Ciccone F; Kahn A
    Hum Genet; 1979 Jan; 46(2):219-26. PubMed ID: 422204
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).
    Van Biervliet JP; Van Milligen-Boersma L; Staal GE
    Clin Chim Acta; 1975 Dec; 65(2):157-65. PubMed ID: 241517
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Glucose phosphate isomerase (GPI) "Morcone": a new variant from Italy.
    Alfinito F; Ferraro F; Rocco S; De Vendittis E; Piccirillo G; Sementa A; Colombo MB; Zanella A; Rotoli B
    Eur J Haematol; 1994 May; 52(5):263-6. PubMed ID: 8020625
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.