102 related articles for article (PubMed ID: 27282571)
1. Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Koralkova P; Mojzikova R; van Oirschot B; Macartney C; Timr P; Vives Corrons JL; Striezencova Laluhova Z; Lejhancova K; Divoky V; van Wijk R
Blood Cells Mol Dis; 2016 Jul; 59():71-6. PubMed ID: 27282571
[TBL] [Abstract][Full Text] [Related]
2. Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM; Dell'Anna S; Hakonen A; Wartiovaara-Kautto U; Kakko S; Rab MAE; van Oirschot B; Kraatari-Tiri M; van Wijk R; Rahikkala E
Br J Haematol; 2024 May; 204(5):2040-2048. PubMed ID: 38415930
[TBL] [Abstract][Full Text] [Related]
3. HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
van Wijk R; Rijksen G; Huizinga EG; Nieuwenhuis HK; van Solinge WW
Blood; 2003 Jan; 101(1):345-7. PubMed ID: 12393545
[TBL] [Abstract][Full Text] [Related]
4. First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.
de Vooght KM; van Solinge WW; van Wesel AC; Kersting S; van Wijk R
Haematologica; 2009 Sep; 94(9):1203-10. PubMed ID: 19608687
[TBL] [Abstract][Full Text] [Related]
5. Downeast anemia (dea), a new mouse model of severe nonspherocytic hemolytic anemia caused by hexokinase (HK(1)) deficiency.
Peters LL; Lane PW; Andersen SG; Gwynn B; Barker JE; Beutler E
Blood Cells Mol Dis; 2001; 27(5):850-60. PubMed ID: 11783948
[TBL] [Abstract][Full Text] [Related]
6. Hexokinase: gene structure and mutations.
Kanno H
Baillieres Best Pract Res Clin Haematol; 2000 Mar; 13(1):83-8. PubMed ID: 10916679
[TBL] [Abstract][Full Text] [Related]
7. Hexokinase deficiency in erythrocytes: a new variant in 5 members of a Finnish family.
Siimes MA; Rahiala EL; Leisti J
Scand J Haematol; 1979 Mar; 22(3):214-8. PubMed ID: 451452
[TBL] [Abstract][Full Text] [Related]
8. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the
Dongerdiye R; Jagadeesh S; Suresh B; Rajendran A; Devendra R; Warang P; Kedar PS
J Clin Pathol; 2021 Oct; 74(10):620-624. PubMed ID: 33361148
[TBL] [Abstract][Full Text] [Related]
9. Hexokinase mutations that produce nonspherocytic hemolytic anemia.
Bianchi M; Magnani M
Blood Cells Mol Dis; 1995; 21(1):2-8. PubMed ID: 7655856
[TBL] [Abstract][Full Text] [Related]
10. Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency.
Beutler E; Dyment PG; Matsumoto F
Blood; 1978 May; 51(5):935-40. PubMed ID: 638252
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M; Manco L; Kalai M; Chaouch L; Douzi K; Silva A; Macedo S; Darragi I; Boudriga I; Chaouachi D; Fitouri Z; Van Wijk R; Ribeiro ML; Abbes S
Int J Lab Hematol; 2017 Apr; 39(2):223-231. PubMed ID: 28133914
[TBL] [Abstract][Full Text] [Related]
12. Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
Dongerdiye R; Kamat P; Jain P; Warang P; Devendra R; Wasekar N; Sharma R; Mhaskar K; Madkaikar MR; Manglani MV; Kedar PS
J Clin Pathol; 2019 Jun; 72(6):393-398. PubMed ID: 30918013
[TBL] [Abstract][Full Text] [Related]
13. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V; Cho MT; van Wijk R; van Oirschot B; Picker J; Coury SA; Grange D; Manwaring L; Krantz I; Muraresku CC; Hulick PJ; May H; Pierce E; Place E; Bujakowska K; Telegrafi A; Douglas G; Monaghan KG; Begtrup A; Wilson A; Retterer K; Anyane-Yeboa K; Chung WK
Eur J Hum Genet; 2019 Jul; 27(7):1081-1089. PubMed ID: 30778173
[TBL] [Abstract][Full Text] [Related]
14. Generalized hexokinase deficiency in the blood cells of a patient with nonspherocytic hemolytic anemia.
Rijksen G; Akkerman JW; van den Wall Bake AW; Hofstede DP; Staal GE
Blood; 1983 Jan; 61(1):12-8. PubMed ID: 6848140
[TBL] [Abstract][Full Text] [Related]
15. Molecular bases of hexokinase deficiency.
Bianchi M; Crinelli R; Serafini G; Giammarini C; Magnani M
Biochim Biophys Acta; 1997 May; 1360(3):211-21. PubMed ID: 9197463
[TBL] [Abstract][Full Text] [Related]
16. Human erythrocyte hexokinase deficiency. Characterization of a mutant enzyme with abnormal regulatory properties.
Rijksen G; Staal GE
J Clin Invest; 1978 Aug; 62(2):294-301. PubMed ID: 27532
[TBL] [Abstract][Full Text] [Related]
17. Gene expression and biological significance of hexokinase in erythroid cells.
Murakami K; Kanno H; Tancabelic J; Fujii H
Acta Haematol; 2002; 108(4):204-9. PubMed ID: 12432216
[TBL] [Abstract][Full Text] [Related]
18. Glucose metabolism in fibroblasts from patients with erythrocyte hexokinase deficiency.
Magnani M; Chiarantini L; Stocchi V; Dachà M; Fornaini G
J Inherit Metab Dis; 1986; 9(2):129-39. PubMed ID: 3091919
[TBL] [Abstract][Full Text] [Related]
19. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.
Miwa S; Fujii H
Am J Hematol; 1996 Feb; 51(2):122-32. PubMed ID: 8579052
[TBL] [Abstract][Full Text] [Related]
20. Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
Abrusci P; Chiarelli LR; Galizzi A; Fermo E; Bianchi P; Zanella A; Valentini G
Exp Hematol; 2007 Aug; 35(8):1182-9. PubMed ID: 17662886
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]