Are we ready to try to cure alkaptonuria?
作者信息
La Du B N
机构信息
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, USA.
出版信息
Am J Hum Genet. 1998 Apr;62(4):765-7. doi: 10.1086/301810.
Abstract
摘要
相似文献
1
Are we ready to try to cure alkaptonuria?我们准备好尝试治愈黑尿症了吗？
Am J Hum Genet. 1998 Apr;62(4):765-7. doi: 10.1086/301810.
2
Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.在斯洛伐克患尿黑酸症患者中鉴定出的尿黑酸1,2-双加氧酶基因的新突变。
J Med Genet. 2000 Jul;37(7):539-42. doi: 10.1136/jmg.37.7.539.
3
Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.对一个患黑尿症家族的尿黑酸1,2双加氧酶基因进行序列分析。
J Med Genet. 1999 Aug;36(8):645-6.
4
Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Am J Med Genet. 1998 Jun 30;78(2):192-4.
5
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.意大利的黑尿症：多态性单倍型背景、突变谱及对尿黑酸1,2 -双加氧酶基因中四个新突变的描述
J Med Genet. 2000 Apr;37(4):309-12. doi: 10.1136/jmg.37.4.309.
6
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.芬兰黑尿症患者中HGO基因的突变分析。
J Med Genet. 1999 Dec;36(12):922-3.
7
The genetic defect of the alkaptonuric mouse (aku).
Mamm Genome. 1999 Jan;10(1):68-70. doi: 10.1007/s003359900945.
8
Alkaptonuria: such a long journey.黑尿症：如此漫长的历程。
Nat Genet. 1996 Sep;14(1):5-6. doi: 10.1038/ng0996-5.
9
The molecular basis of alkaptonuria.黑尿症的分子基础。
Nat Genet. 1996 Sep;14(1):19-24. doi: 10.1038/ng0996-19.
10
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.多米尼加共和国的黑尿症：始祖黑尿症突变的鉴定及HGO基因中突变热点的进一步证据
J Med Genet. 2002 Jul;39(7):E40. doi: 10.1136/jmg.39.7.e40.
引用本文的文献
1
Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.褐黄病性关节病与尿黑酸尿症（褐黄病）：病例报告
Rev Bras Ortop (Sao Paulo). 2024 Apr 23;59(Suppl 2):e220-e223. doi: 10.1055/s-0044-1779309. eCollection 2024 Nov.
2
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.小鼠酪氨酸途径酶的表达表明，肝脏中尿黑酸1,2-双加氧酶缺乏是尿黑酸衍生的褐黄病色素沉着的原因。
JIMD Rep. 2020 Nov 12;58(1):52-60. doi: 10.1002/jmd2.12184. eCollection 2021 Mar.
3
Progress in Alkaptonuria--are we near to an effective therapy?黑尿症的进展——我们离有效治疗还有多远？
J Inherit Metab Dis. 2015 Sep;38(5):787-9. doi: 10.1007/s10545-015-9888-7.
4
Radiologic features of lumbar spine in ochronosis in late stages.晚期褐黄病腰椎的放射学特征。
Clin Rheumatol. 2006 Jul;25(4):588-90. doi: 10.1007/s10067-005-0033-0. Epub 2005 Oct 25.
5
Garrod's foresight; our hindsight.加罗德的先见之明；我们的后见之明。
J Inherit Metab Dis. 2001 Apr;24(2):93-116. doi: 10.1023/a:1010351630856.
6
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.携带尿黑酸1,2-双加氧酶基因突变的尿黑酸尿症患者的眼部褐黄病
Br J Ophthalmol. 1999 Jun;83(6):680-3. doi: 10.1136/bjo.83.6.680.
本文引用的文献
1
The nature of the defect in tyrosine metabolism in alcaptonuria.黑尿症中酪氨酸代谢缺陷的本质。
J Biol Chem. 1958 Jan;230(1):251-60.
2
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.尿黑酸尿症患者中人类尿黑酸1,2-双加氧酶基因的突变和多态性分析
Am J Hum Genet. 1998 Apr;62(4):776-84. doi: 10.1086/301805.
3
The human homogentisate 1,2-dioxygenase (HGO) gene.
Genomics. 1997 Jul 15;43(2):115-22. doi: 10.1006/geno.1997.4805.
4
Molecular defects in alkaptonuria.黑尿症中的分子缺陷。
Cytogenet Cell Genet. 1997;76(1-2):14-6. doi: 10.1159/000134501.
5
The molecular basis of alkaptonuria.黑尿症的分子基础。
Nat Genet. 1996 Sep;14(1):19-24. doi: 10.1038/ng0996-19.
6
aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.aku是与人类黑尿症同源的小鼠突变体，定位于16号染色体。
Genomics. 1994 Jan 1;19(1):9-11. doi: 10.1006/geno.1994.1004.
Zotero 插件