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.
Abstract
摘要
相似文献
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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.
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.
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