Gene diagnosis of alkaptonuria in an infant

HU Man, MA Hong-Wei, LUO Yang, WANG Lin, SONG Ying, LI Fang

Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (10) : 796-797.

PDF(875 KB)
PDF(875 KB)
Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (10) : 796-797.
CASE REPORT

Gene diagnosis of alkaptonuria in an infant

  • HU Man, MA Hong-Wei, LUO Yang, WANG Lin, SONG Ying, LI Fang
Author information +
History +

Abstract

No abstract available

Cite this article

Download Citations
HU Man, MA Hong-Wei, LUO Yang, WANG Lin, SONG Ying, LI Fang. Gene diagnosis of alkaptonuria in an infant[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(10): 796-797

References

[1]Garrod AE. The incidence of alkaptonuria: a study in chemical individuality[J]. Lancet, 1902, 160(4137): 1616,1620.

[2]Garrod AE. The Croonian lectures on inborn errors of metabolism, lecture II: alkaptonuria[J]. Lancet, 1908, 172: 73,79.

[3]Pandey R, Kumar A , Garg R, Khanna P, Darlong V. Perioperative management of patient with alkaptonuria and associated multiple comorbiditie[J]. J Anaesthesiol Clin Pharmaco, 2011, 27(2): 259,261.

[4]Vinjamuri S, Ramesh CN, Jarvis J, Gallagher JA, Ranganath LL. Nuclear medicine techniques in the assessment of alkaptonuria[J]. Nucl Med Commun, 2011, 32(10): 880,886.

[5]Zatkova A. An update on molecular genetics of Alkaptonuria(AKU)[J]. J Inherit Metab Dis, 2011, 34(6): 1127,1136.

[6]陈龙,朱林学,陈柳青,姜一化,李东升,曾志良,等. 褐黄病[J]. 临床皮肤科杂志,2007,36(6):359,361.

[7]牟世纹,崔淑珍. 小儿尿黑酸尿一例报告[J]. 吉林医学,1986,7(3):44,45.

[8]朱有余,秦先华. 黑酸尿症1例[J]. 实用内科杂志,1989,9(8):447.

[9]丁国林,刘洪贵. 老年人黑酸尿症一例报告[J]. 临床内科杂志,1991,8(6):35.

[10]王艳莉,房爱娟. 褐黄病1例[J]. 疑难病杂志,2012,11(2):144,145.

[11]Tharini G, Ravindran V, Hema N, Prabhavathy D, Parveen B. Alkaptonuria[J]. Indian J Dermatol, 2011, 56(2): 194,196.

[12]Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, et al. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy[J]. Pediatr Res, 1989, 26(2): 140,144.

[13]Morava E, Kosztolanyi G,  Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria[J]. Ann Clin Biochem, 2003, 40(Pt 1): 108-111.

[14]Anikster Y, Nyhan WL, Gahl WA.  NTBC and alkaptonuria[J]. Am J Hum Genet, 1998, 63(3): 920-921.

[15]Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, et al. A 3-year randomized therapeutic trial of nitisinone in  alkaptonuria[J]. Mol Genet Metab, 2011, 103(4): 307-314.

[16]刘湘源,黄烽,李胜光,张江林,李红.褐黄病一例[J]. 中华医学杂志,2003,83(1):62.
PDF(875 KB)

Accesses

Citation

Detail

Sections
Recommended

/