X连锁肾上腺脑白质营养不良：采用生化和免疫学方法改进产前诊断 - Suppr

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超能文献

X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

作者信息

Wanders R J, Mooyer P W, Dekker C, Vreken P

机构信息

University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):285-7. doi: 10.1023/a:1005336726127.

DOI:10.1023/a:1005336726127

PMID:9686376

Abstract

摘要

相似文献

X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.X连锁肾上腺脑白质营养不良：采用生化和免疫学方法改进产前诊断

J Inherit Metab Dis. 1998 Jun;21(3):285-7. doi: 10.1023/a:1005336726127.

The prenatal diagnosis of X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良的产前诊断

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Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.突变型与正常肾上腺脑白质营养不良蛋白的共表达降低蛋白功能：对X连锁肾上腺脑白质营养不良基因治疗的启示

Hum Mol Genet. 2000 Nov 1;9(18):2609-16. doi: 10.1093/hmg/9.18.2609.

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.肾上腺脑白质营养不良相关蛋白可在功能上补偿肾上腺脑白质营养不良蛋白缺乏（X-ALD）：对治疗的启示。

Hum Mol Genet. 1999 May;8(5):907-13. doi: 10.1093/hmg/8.5.907.

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良患者成纤维细胞中的ALDP表达。

J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844.

Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein.对一名可检测到肾上腺脑白质营养不良（ALD）蛋白的X连锁肾上腺脑白质营养不良患者进行的突变分析。

Ann N Y Acad Sci. 1996 Dec 27;804:756-9. doi: 10.1111/j.1749-6632.1996.tb18692.x.

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.过氧化物酶体ATP结合盒（ABC）蛋白对过氧化物酶体膜蛋白缺陷的抑制作用。

Hum Mol Genet. 1998 Feb;7(2):239-47. doi: 10.1093/hmg/7.2.239.

Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.蛋白酶抑制剂可抑制突变型肾上腺脑白质营养不良蛋白的降解，但不能纠正肾上腺脑白质营养不良成纤维细胞中极长链脂肪酸代谢的损伤。

Neurochem Res. 1997 Mar;22(3):233-7. doi: 10.1023/a:1022477001703.

Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy.胆固醇调节ABCD2表达：对X连锁肾上腺脑白质营养不良治疗的意义。

Hum Mol Genet. 2002 Oct 15;11(22):2701-8. doi: 10.1093/hmg/11.22.2701.

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.X连锁肾上腺脑白质营养不良：临床、代谢、遗传及病理生理方面

Biochim Biophys Acta. 2012 Sep;1822(9):1465-74. doi: 10.1016/j.bbadis.2012.03.012. Epub 2012 Mar 28.

引用本文的文献

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.X连锁肾上腺脑白质营养不良的遗传图谱：遗传方式、突变、修饰基因及诊断

Appl Clin Genet. 2015 May 2;8:109-21. doi: 10.2147/TACG.S49590. eCollection 2015.

本文引用的文献

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.使用稳定同位素稀释气相色谱 - 质谱法进行过氧化物酶体疾病的产前和产后诊断。

J Inherit Metab Dis. 1995;18 Suppl 1:45-60. doi: 10.1007/BF00711428.

DNA diagnosis of X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良的DNA诊断

J Inherit Metab Dis. 1995;18 Suppl 1:34-44. doi: 10.1007/BF00711427.

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良患者成纤维细胞中的ALDP表达。

J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844.

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良患者及杂合子女性的突变与蛋白质分析。

Am J Hum Genet. 1996 Jun;58(6):1135-44.

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.推测的X连锁肾上腺脑白质营养不良基因与ABC转运蛋白具有意外的同源性。

Nature. 1993 Feb 25;361(6414):726-30. doi: 10.1038/361726a0.

Altered expression of ALDP in X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良中肾上腺脑白质营养不良蛋白（ALDP）的表达改变。

Am J Hum Genet. 1995 Aug;57(2):292-301.

A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.

Prenat Diagn. 1995 May;15(5):486-90. doi: 10.1002/pd.1970150514.

Peroxisomal disorders: a review.过氧化物酶体疾病：综述

J Neuropathol Exp Neurol. 1995 Sep;54(5):726-39. doi: 10.1097/00005072-199509000-00016.

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