An unusual case of homocystinuria.

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作者信息

Garston J B, Gordon R R, Hart C T, Pollitt R J

出版信息

Br J Ophthalmol. 1970 Apr;54(4):248-51. doi: 10.1136/bjo.54.4.248.

DOI:10.1136/bjo.54.4.248

PMID:5428654

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1207752/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77bc/1207752/974202e2bd3c/brjopthal00316-0033-a.jpg

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An unusual case of homocystinuria.

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引用本文的文献

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本文引用的文献

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

OCULAR INVOLVEMENT IN HOMOCYSTINURIA.

Br J Ophthalmol. 1964 Dec;48(12):688-9. doi: 10.1136/bjo.48.12.688.

[Ocular manifestations of homocystinuria, report of two cases].

Nippon Ganka Gakkai Zasshi. 1967 Jan;71(1):66-73.

Bilateral central retinal artery occlusion in homocystinuria. A case report.

Arch Ophthalmol. 1969 Aug;82(2):267-8. doi: 10.1001/archopht.1969.00990020269025.

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相似文献

An unusual case of homocystinuria.

Br J Ophthalmol. 1970 Apr;54(4):248-51. doi: 10.1136/bjo.54.4.248.

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

J Inherit Metab Dis. 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649.

Pyridoxine-unresponsive homocystinuria.

N Engl J Med. 1970 Nov 26;283(22):1206-8. doi: 10.1056/NEJM197011262832207.

The successful treatment of homocystinuria with pyridoxine.

J Pediatr. 1969 Sep;75(3):463-78. doi: 10.1016/s0022-3476(69)80274-x.

[Homocystinuria: clinical picture, therapy and results in 8 patients].

Dtsch Med Wochenschr. 1973 Jul 6;98(27):1313-9. doi: 10.1055/s-0028-1107021.

Bilateral central retinal artery occlusion in homocystinuria. A case report.

Arch Ophthalmol. 1969 Aug;82(2):267-8. doi: 10.1001/archopht.1969.00990020269025.

Homocystinuria: pathogenetic mechanisms.

Am J Med Sci. 1977 Mar-Apr;273(2):120-32.

[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)].

Ann Pediatr (Paris). 1982 Mar;29(3):203-7.

Anterior dislocation of the lens in homocystinuria.

Br J Ophthalmol. 1973 May;57(5):325-9. doi: 10.1136/bjo.57.5.325.

[Homocystinuria].

Bull Soc Belge Ophtalmol. 1967 Nov 26;147:485-94.

引用本文的文献

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

BMJ. 1996 Oct 26;313(7064):1037-40. doi: 10.1136/bmj.313.7064.1037.

Homocystinuria. Review of four cases.

Br J Ophthalmol. 1971 May;55(5):338-42. doi: 10.1136/bjo.55.5.338.

Anterior dislocation of the lens in homocystinuria.

Br J Ophthalmol. 1973 May;57(5):325-9. doi: 10.1136/bjo.57.5.325.

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Am J Hum Genet. 1985 Jan;37(1):1-31.

Homocystinuria and the passing of the one gene-one enzyme concept of disease.

Trans Am Ophthalmol Soc. 1978;76:296-315.

本文引用的文献

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

OCULAR INVOLVEMENT IN HOMOCYSTINURIA.

Br J Ophthalmol. 1964 Dec;48(12):688-9. doi: 10.1136/bjo.48.12.688.

[Ocular manifestations of homocystinuria, report of two cases].

Nippon Ganka Gakkai Zasshi. 1967 Jan;71(1):66-73.

Bilateral central retinal artery occlusion in homocystinuria. A case report.

Arch Ophthalmol. 1969 Aug;82(2):267-8. doi: 10.1001/archopht.1969.00990020269025.