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Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis.

作者信息

Boers G H, Polder T W, Cruysberg J R, Schoonderwaldt H C, Peetoom J J, Van Ruyven T W, Smals A G, Kloppenborg P W

出版信息

Neth J Med. 1984;27(6):206-12.

PMID:6462308
Abstract
摘要

相似文献

1
Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis.同型胱氨酸尿症与马方综合征：鉴别诊断的治疗意义
Neth J Med. 1984;27(6):206-12.
2
[Differential diagnosis of Marfan's disease and homocystinuria].
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3
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[Marfan's syndrome].[马方综合征]
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5
Homocystinuria: a differential diagnosis of Marfan's syndrome.
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6
Homocystinuria or Marfan's syndrome?
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The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria.
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[The clinical picture and histology of Marfan's syndrome (author's transl)].马方综合征的临床表现与组织学（作者译）
Klin Monbl Augenheilkd. 1976 Sep;169(3):377-81.
9
[Studies on free amino acids in the urine of patients with ocular diseases. II. Hydroxyproline in the urine of the patients with Marfan's syndrome].
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Neurologic manifestations of homocystinuria.同型胱氨酸尿症的神经学表现。
Clin Neurol Neurosurg. 1981;83(3):153-62. doi: 10.1016/0303-8467(81)90017-2.

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Homocystinuria and ocular complications - A review.高胱氨酸尿症与眼部并发症-综述。
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Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.遗传性代谢疾病的临床和生化特征。VII. 眼部表型。
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Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria.同型胱氨酸尿症一例骨骼畸形管理中的整体方法
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Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.导致儿童青光眼的罕见疾病：流行病学、病理生理机制及管理
Biomed Res Int. 2015;2015:781294. doi: 10.1155/2015/781294. Epub 2015 Sep 16.
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Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.同型胱氨酸尿症诊断延误：对连续患者的回顾性研究
BMJ. 1996 Oct 26;313(7064):1037-40. doi: 10.1136/bmj.313.7064.1037.
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Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.通过甲硫氨酸负荷试验与培养成纤维细胞中酶的测定相结合，改进对因胱硫醚合成酶缺乏所致同型胱氨酸尿症杂合子的识别。
Hum Genet. 1985;69(2):164-9. doi: 10.1007/BF00293290.
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Homocystinuria presenting as central retinal artery occlusion and longstanding thromboembolic disease.表现为视网膜中央动脉阻塞和长期血栓栓塞性疾病的同型胱氨酸尿症。
Br J Ophthalmol. 1990 Nov;74(11):696-7. doi: 10.1136/bjo.74.11.696.