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1
Homocystinuria and the passing of the one gene-one enzyme concept of disease.同型胱氨酸尿症与疾病的“一个基因一种酶”概念的传承
Trans Am Ophthalmol Soc. 1978;76:296-315.
2
[Possibilities and limits of human genetic diagnoses].[人类基因诊断的可能性与局限性]
Z Orthop Ihre Grenzgeb. 1978 Aug;116(4):541-4.
3
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.因胱硫醚β-合酶缺乏导致同型胱氨酸尿症患者的分子分析:外显子8新突变及内含子11缺失的报告
J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769.
4
Cystathionine beta-synthase mutations in homocystinuria.同型胱氨酸尿症中的胱硫醚β-合酶突变
Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K.
5
A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.一种与因子V莱顿突变相关的、位于I278T胱硫醚β合成酶基因对面的新突变,导致轻度同型胱氨酸尿症但严重的血管疾病。
Thromb Haemost. 2001 Aug;86(2):716-7.
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Another genetic basis for vascular disease.
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Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.波兰同型胱氨酸尿症患者CBS基因两个新突变的鉴定与功能分析。
Hum Mutat. 2004 Jun;23(6):631. doi: 10.1002/humu.9249.
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Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.胱硫醚β-合酶缺乏症的临床特征:范围有多广?意大利高胱氨酸尿症协作研究组
Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309.
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Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.三名对维生素B6无反应的同型胱氨酸尿症患者胱硫醚β-合酶基因中五个错义突变的特征分析
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Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.胱硫醚β-合酶缺乏所致同型胱氨酸尿症:临床表现与治疗
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本文引用的文献

1
HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.同型胱氨酸尿症。对20个家庭中38名患者的研究。
JAMA. 1965 Aug 30;193:711-9. doi: 10.1001/jama.1965.03090090017003.
2
HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.同型胱氨酸尿症:大脑中缺乏胱硫醚。
Science. 1964 Aug 7;145(3632):588. doi: 10.1126/science.145.3632.588.
3
HOMOCYSTINURIA: AN ENZYMATIC DEFECT.同型胱氨酸尿症:一种酶缺陷。
Science. 1964 Mar 27;143(3613):1443-5. doi: 10.1126/science.143.3613.1443.
4
Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.在北爱尔兰对智力落后个体的一项调查中检测到的代谢异常。
Arch Dis Child. 1962 Oct;37(195):505-13. doi: 10.1136/adc.37.195.505.
5
The identification of homocystine in the urine.尿液中同型胱氨酸的鉴定。
Biochem Biophys Res Commun. 1962 Dec 19;9:493-6. doi: 10.1016/0006-291x(62)90114-6.
6
On the methodology of investigations of etiologic factors in chronic diseases.论慢性病病因学因素的调查方法
J Chronic Dis. 1959 Jul;10(1):27-40. doi: 10.1016/0021-9681(59)90015-3.
7
Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test.
Pediatrics. 1967 Oct;40(4):586-9.
8
Homocystinuria. In a mentally retarded child and her normal cousin.同型胱氨酸尿症。见于一名智力发育迟缓儿童及其正常表弟。
Trans Am Acad Ophthalmol Otolaryngol. 1965 Sep-Oct;69(5):912-30.
9
Homocystinuria due to cystathionine synthase deficiency.由于胱硫醚合成酶缺乏所致的同型胱氨酸尿症。
Ann Intern Med. 1965 Dec;63(6):1117-42. doi: 10.7326/0003-4819-63-6-1117.
10
The successful treatment of homocystinuria with pyridoxine.用吡哆醇成功治疗同型胱氨酸尿症。
J Pediatr. 1969 Sep;75(3):463-78. doi: 10.1016/s0022-3476(69)80274-x.

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

作者信息

Spaeth G L, Barber G W

出版信息

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

PMID:754376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1311628/
Abstract
摘要