Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.
作者信息
Steinmann B, Eyre D R, Shao P
出版信息
Am J Hum Genet. 1995 Dec;57(6):1505-8.
Abstract
摘要
相似文献
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Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.Ⅵ型埃勒斯-当洛综合征中的尿吡啶啉交联物
Am J Hum Genet. 1995 Dec;57(6):1505-8.
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Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI.尿吡啶交联：一种用于诊断Ⅵ型埃勒斯-当洛综合征的非侵入性检测方法。
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Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.从患有Ⅵ型埃勒斯-当洛综合征患者培养的皮肤成纤维细胞中胶原蛋白交联的异常形成。
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The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.埃勒斯-当洛综合征（VI型）的脊柱后侧凸型：通过分析尿中交联端肽揭示其对I型和II型胶原蛋白赖氨酸羟基化的不同影响
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本文引用的文献
1
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.赖氨酸羟化酶基因的大片段重复导致了两名同胞患埃勒斯-当洛综合征VI型变异。
Genomics. 1993 Feb;15(2):399-404. doi: 10.1006/geno.1993.1074.
2
3
Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI.尿吡啶交联：一种用于诊断Ⅵ型埃勒斯-当洛综合征的非侵入性检测方法。
N Engl J Med. 1994 Jul 14;331(2):132-3. doi: 10.1056/NEJM199407143310217.
4
Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides.通过尿I型胶原交联肽检测法监测儿童的骨吸收速率。
Bone. 1994 Jan-Feb;15(1):31-4. doi: 10.1016/8756-3282(94)90888-5.
5
Comparison of new biochemical markers of bone turnover in late postmenopausal osteoporotic women in response to alendronate treatment.绝经后晚期骨质疏松女性使用阿仑膦酸盐治疗后骨转换新生化标志物的比较。
J Clin Endocrinol Metab. 1994 Dec;79(6):1693-700. doi: 10.1210/jcem.79.6.7989477.
6
Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen.高纯度赖氨酰羟化酶无法使胶原蛋白非螺旋区域的赖氨酰残基发生羟基化。
Biochem J. 1985 Sep 1;230(2):475-80. doi: 10.1042/bj2300475.
7
Collagen cross-linking amino acids.胶原蛋白交联氨基酸。
Methods Enzymol. 1987;144:115-39. doi: 10.1016/0076-6879(87)44176-1.
8
Changes with age in the urinary excretion of lysyl- and hydroxylysylpyridinoline, two new markers of bone collagen turnover.骨胶原转换的两个新标志物——赖氨酰吡啶啉和羟赖氨酰吡啶啉的尿排泄量随年龄的变化。
J Bone Miner Res. 1990 Jul;5(7):671-6. doi: 10.1002/jbmr.5650050702.
9
Evaluation of urinary hydroxypyridinium crosslink measurements as resorption markers in metabolic bone diseases.评估尿中羟基吡啶交联测量作为代谢性骨病中再吸收标志物的情况。
Eur J Clin Invest. 1991 Jun;21(3):310-5. doi: 10.1111/j.1365-2362.1991.tb01375.x.
10
A specific immunoassay for monitoring human bone resorption: quantitation of type I collagen cross-linked N-telopeptides in urine.一种用于监测人体骨吸收的特异性免疫测定法：尿中I型胶原交联N-末端肽的定量分析。
J Bone Miner Res. 1992 Nov;7(11):1251-8. doi: 10.1002/jbmr.5650071119.
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