葡萄糖-6-磷酸脱氢酶缺乏症

WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-11. 摘要

Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. 摘要

Roper D, Layton M, Rees D, et al. Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline. Br J Haematol. 2020 Apr;189(1):24-38.全文  摘要

1. WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-11. 摘要

2. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. 摘要

3. Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007 Sep;21(5):267-83. 摘要

4. Luzzatto L. Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype. Haematologica. 2006 Oct;91(10):1303-6.全文  摘要

5. Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. 2008 Jan 1;111(1):16-24.全文  摘要

6. Lim F, Vulliamy T, Abdalla SH. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol. 2005 Mar;58(3):317-9. 摘要

7. Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005 Oct 1;72(7):1277-82. 摘要

8. Guindo A, Fairhurst RM, Doumbo OK, et al. X-linked G6PD deficiency protects hemizygous males but not heterozygous females against severe malaria. PLoS Med. 2007 Mar;4(3):e66.全文  摘要

9. Ruwende C, Khoo SC, Snow RW, et al. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995 Jul 20;376(6537):246-9. 摘要

10. Vulliamy TJ, Kaeda JS, Ait-Chafa D, et al. Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Br J Haematol. 1998 Jun;101(4):670-5. 摘要

11. Luzzatto L, Vincenzo P: Glucose-6-phosphate dehydrogenase deficiency. In: Orkin SH et al, eds: Nathan and Oski's Hematology and oncology of infancy and childhood. Philadelphia, PA: Saunders; 2015:609-29.

12. Beutler E. G6PD deficiency. Blood. 1994 Dec 1;84(11):3613-36.全文  摘要

13. Mehta AB. Glucose-6-phosphate dehydrogenase deficiency. Postgrad Med J. 1994 Dec;70(830):871-7.

14. Monteiro WM, Franca GP, Melo GC, et al. Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes. Malar J. 2014 Feb 25;13:70.全文  摘要

15. Youngster I, Arcavi L, Schechmaster R, et al. Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review. Drug Saf. 2010 Sep 1;33(9):713-26. 摘要

16. Maisels MJ. Neonatal jaundice. Pediatr Rev. 2006 Dec;27(12):443-54. 摘要

17. Beutler E, Gelbart T, Miller W. Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Blood Cells Mol Dis. 2002 Mar-Apr;28(2):104-7. 摘要

18. Steiner LA, Gallagher PG. Erythrocyte disorders in the perinatal period. Semin Perinatol. 2007 Aug;31(4):254-61. 摘要

19. Kaplan M, Rubaltelli FF, Hammerman C, et al. Conjugated bilirubin in neonates with glucose-6-phosphate dehydrogenase deficiency. J Pediatr. 1996 May;128(5 Pt 1):695-7. 摘要

20. Kaplan M, Rembaum P, Levy-Lahad E, et al. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinanemia. Proc Natl Acad Sci USA. 1997 Oct 28;94(22):12128-32.全文  摘要

21. Luzzatto L, Mehta AB, Vulliamy T. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York, NY: McGraw Hill; 2001:4517-53.

22. Matthay KK, Mentzer WC. Erythrocyte enzymopathies in the newborn. Clin Haematol. 1981 Feb;10(1):31-55. 摘要

23. Meloni T, Forteleoni G, Noja G, et al. Increased prevalence of glucose-6-phosphate dehydrogenase deficiency in patients with cholelithiasis. Acta Haematol. 1991;85(2):76-8. 摘要

24. Fanello CI, Karema C, Avellino P, et al. High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. PLoS One. 2008;3(12):e4031.全文  摘要

25. Roper D, Layton M, Rees D, et al. Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline. Br J Haematol. 2020 Apr;189(1):24-38.全文  摘要

26. Katar S, Devecioglu C, Ozbek MN, et al. Henna causes life-threatening hyperbilirubinaemia in glucose-6-phosphate dehydrogenase deficiency. Clin Exp Dermatol. 2007 Mar;32(2):235-6. 摘要

27. Arese P, De Flora A. Pathophysiology of hemolysis in glucose-6-phosphate dehydrogenase deficiency. Semin Hematol. 1990 Jan;27(1):1-40. 摘要

28. Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93. 摘要

29. Luzzatto L, Ally M, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Blood. 2020 Sep 10;136(11):1225-40.全文  摘要

30. Peters AL, Van Noorden CJ. Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. J Histochem Cytochem. 2009 Nov;57(11):1003-11.全文  摘要

31. Domingo GJ, Advani N, Satyagraha AW, et al. Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities. Int Health. 2019 Jan 1;11(1):7-14.全文  摘要

32. World Health Organization. Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure. Jul 2018 [internet publication].全文

33. Fan YH, Lazenbery L, Foster E, et al. Improved quantitative method for G6PD deficiency detection. J Clin Lab Anal. 2007 Mar 26;21(2):107-13. 摘要

34. Beutler E, Mitchell M. Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood. 1968 Nov;32(5):816-8.全文  摘要

35. Beutler E, Blume KG, Kaplan JC, et al. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. Br J Haematol. 1977 Feb;35(2):331-40. 摘要

36. Wan GH, Lin KK, Tsai SC, et al. Decreased glucose-6-phosphate dehydrogenase (G6PD) activity and risk of senile cataract in Taiwan. Ophthalmic Epidemiol. 2006 Apr;13(2):109-14. 摘要

37. Elyassi AR, Rowshan HH. Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. Anesth Prog. Autumn 2009;56(3):86-91.全文  摘要

38. Renzaho AM, Husser E, Polonsky M. Should blood donors be routinely screened for glucose-6-phosphate dehydrogenase deficiency? A systematic review of clinical studies focusing on patients transfused with glucose-6-phosphate dehydrogenase-deficient red cells. Transfus Med Rev. 2014 Jan;28(1):7-17 摘要

39. Ip S, Chung M, Kulig J, et al.; American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. An evidence-based review of important issues concerning neonatal hyperbilirubinemia. Pediatrics. 2004 Jul;114(1):e130-53.全文  摘要

40. National Institute for Health and Care Excellence. Routine postnatal care of women and their babies. July 2006 [internet publication].全文

41. Kemper AR, Newman TB, Slaughter JL, et al. Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2022 Sep 1;150(3):e2022058859.全文  摘要

42. Holtrop PC, Ruedisueli K, Maisels, MJ. Double versus single phototherapy in low birth weight newborns. Pediatrics. 1992 Nov;90(5):674-7. 摘要

43. Mills JF, Tudehope D. Fibreoptic phototherapy for neonatal jaundice. Cochrane Database Syst Rev. 2001 Jan 22;2001(1):CD002060.全文  摘要

44. Thayyil S, Milligan DW. Single versus double volume exchange transfusion in jaundiced newborn infants. Cochrane Database Syst Rev. 2006 Oct 18;(4):CD004592.全文  摘要

45. Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011 Nov;155(3):308-17. 摘要

46. Abu-Osba YK, Mallouh AA, Hann RW. Incidence and causes of sepsis in glucose-6-phosphate dehydrogenase deficient newborn infants. J Pediatr. 1989 May;114(5):748-52. 摘要

47. Abraham E. Glucose-6-phosphate dehydrogenase and sepsis:the jury is still out. Crit Care Med. 2007 Feb;35(2):655-6. 摘要