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Osteoporosis in late-diagnosed adult homocystinuric patients.

作者信息

Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H

机构信息

Laboratoire de Biochimie, Hôpital Pellegrin, Bordeaux, France.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):338-40. doi: 10.1023/a:1005618927729.

DOI:10.1023/a:1005618927729
PMID:10896288
Abstract
摘要

相似文献

1
Osteoporosis in late-diagnosed adult homocystinuric patients.迟发性成人同型胱氨酸尿症患者的骨质疏松症
J Inherit Metab Dis. 2000 Jun;23(4):338-40. doi: 10.1023/a:1005618927729.
2
[Homocystinuria in Israel].[以色列的同型胱氨酸尿症]
Harefuah. 1988 Nov 1;115(9):221-4.
3
[A case of homocystinuria with predominating musculosceletal system].
Arch Orthop Unfallchir. 1973 Mar 26;75(2):121-30. doi: 10.1007/BF00416367.
4
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients].[19例捷克和斯洛伐克胱硫醚β合酶缺乏型同型胱氨酸尿症患者的临床症状]
Cas Lek Cesk. 2000 Aug 16;139(16):500-7.
5
[Severe hyperhomocysteinemia revealing homocystinuria in two young adults with mild phenotype].[严重高同型半胱氨酸血症揭示两名轻度表型年轻成人的同型胱氨酸尿症]
Rev Med Interne. 2006 Feb;27(2):140-3. doi: 10.1016/j.revmed.2005.09.018. Epub 2005 Nov 7.
6
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.早发性颈动脉粥样硬化：它在家族性高胆固醇血症和同型胱氨酸尿症中均会出现吗？动脉内膜中层厚度和血流速度的超声评估。
Stroke. 1994 May;25(5):943-50. doi: 10.1161/01.str.25.5.943.
7
Adult-onset homocystinuria arteriopathy mimics fibromuscular dysplasia.成人发病的同型胱氨酸尿症动脉病酷似纤维肌发育异常。
Am J Med. 2008 Sep;121(9):e5-6. doi: 10.1016/j.amjmed.2008.04.021.
8
Ophthalmic abnormalities in homocystinuria: the value of screening.
Eye (Lond). 1998;12 ( Pt 3a):427-30. doi: 10.1038/eye.1998.100.
9
Bilateral occlusion of the central retinal artery in a homocystinuric patient: the role of echography.同型胱氨酸尿症患者双侧视网膜中央动脉阻塞：超声检查的作用
Ophthalmologica. 1998;212 Suppl 1:95-8. doi: 10.1159/000055440.
10
Homocystinuria presenting with portal vein thrombosis and pancreatic pseudocyst: a case report.以门静脉血栓形成和胰腺假性囊肿为表现的同型胱氨酸尿症：一例报告
Pediatr Radiol. 1997 Oct;27(10):802-4. doi: 10.1007/s002470050237.

引用本文的文献

1
Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.蛋氨酸限制饮食或酶替代疗法对高胱氨酸尿症小鼠行为、身体成分和血管表型的影响。
FASEB J. 2019 Nov;33(11):12477-12486. doi: 10.1096/fj.201901203R. Epub 2019 Aug 26.
2
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.酶替代疗法改善了小鼠同型胱氨酸尿症的多种症状。
Mol Ther. 2018 Mar 7;26(3):834-844. doi: 10.1016/j.ymthe.2017.12.014. Epub 2017 Dec 19.
3
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.

本文引用的文献

1
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.爱尔兰因胱硫醚β-合酶缺乏导致的同型胱氨酸尿症：对经新生儿筛查和治疗的人群25年的临床结局和生化指标控制经验。
J Inherit Metab Dis. 1998 Oct;21(7):738-47. doi: 10.1023/a:1005445132327.
2
Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.
Biochim Biophys Acta. 1996 Apr 12;1315(3):159-62. doi: 10.1016/0925-4439(95)00119-0.
3
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.由于胱硫醚β-合酶缺乏导致的同型胱氨酸尿症的自然病史。
酶替代疗法可预防小鼠同型胱氨酸尿症中的新生儿死亡、肝损伤和骨质疏松症。
FASEB J. 2017 Dec;31(12):5495-5506. doi: 10.1096/fj.201700565R. Epub 2017 Aug 16.
4
Cystathionine β-synthase deficiency: Of mice and men.胱硫醚β-合酶缺乏症：小鼠与人类
Mol Genet Metab. 2017 Jul;121(3):199-205. doi: 10.1016/j.ymgme.2017.05.011. Epub 2017 May 19.
5
Low bone mineral density is a common finding in patients with homocystinuria.骨矿物质密度低是同型胱氨酸尿症患者的常见表现。
Mol Genet Metab. 2016 Mar;117(3):351-4. doi: 10.1016/j.ymgme.2015.12.003. Epub 2015 Dec 10.
6
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.经 CBS 缺陷所致的高胱氨酸尿症患儿中，骨矿物质密度和身体成分的变化。
Osteoporos Int. 2013 Sep;24(9):2535-8. doi: 10.1007/s00198-013-2351-4. Epub 2013 May 18.
7
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.胱硫醚β-合酶缺乏症的血管并发症：同型半胱氨酸向硫化氢研究的未来方向。
Am J Physiol Heart Circ Physiol. 2011 Jan;300(1):H13-26. doi: 10.1152/ajpheart.00598.2010. Epub 2010 Oct 22.
8
Body composition in young adults with inborn errors of protein metabolism--a pilot study.患有蛋白质代谢先天性疾病的年轻成年人的身体成分——一项初步研究。
J Inherit Metab Dis. 2005;28(5):613-26. doi: 10.1007/s10545-005-0036-7.
9
Osteoporosis and cardiovascular disease: brittle bones and boned arteries, is there a link?骨质疏松症与心血管疾病：脆弱骨骼与“骨化”动脉，二者有关联吗？
Endocrine. 2004 Feb;23(1):1-10. doi: 10.1385/ENDO:23:1:01.
10
Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model.动物模型中高同型半胱氨酸血症性骨病的化学和生物力学特征
BMC Musculoskelet Disord. 2003 Feb 20;4:2. doi: 10.1186/1471-2474-4-2.
Am J Hum Genet. 1985 Jan;37(1):1-31.