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1
Treatment of homocystinuria.同型胱氨酸尿症的治疗。
Arch Dis Child. 1967 Oct;42(225):514-20. doi: 10.1136/adc.42.225.514.
2
Dietary treatment of homocystinuria.同型胱氨酸尿症的饮食治疗。
Arch Dis Child. 1966 Dec;41(220):666-71. doi: 10.1136/adc.41.220.666.
3
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.
Lancet. 1968 Aug 31;2(7566):474-8. doi: 10.1016/s0140-6736(68)90646-6.
4
Dietary treatment of homocystinuria.
Am J Dis Child. 1967 Jan;113(1):98-100. doi: 10.1001/archpedi.1967.02090160148022.
5
Some theoretical considerations in the treatment of homocystinuria.
Am J Dis Child. 1967 Jan;113(1):101-2. doi: 10.1001/archpedi.1967.02090160151023.
6
The biosynthesis of cystathionine in patients with homocystinuria.同型胱氨酸尿症患者中胱硫醚的生物合成。
Pediatr Res. 1968 May;2(3):149-60. doi: 10.1203/00006450-196805000-00001.
7
Homocystinuria. Trial treatment of a 5-year old severely retarded child with a natural diet low in methionine.
Am J Dis Child. 1967 Jan;113(1):95-7.
8
Spectrum of hypermethioninemia in neonatal screening.新生儿筛查中高甲硫氨酸血症的谱系
Early Hum Dev. 2005 Jun;81(6):529-33. doi: 10.1016/j.earlhumdev.2004.11.005. Epub 2004 Dec 19.
9
Homocystinuria. Report of two cases in siblings.
Indian J Pediatr. 1970 Jun;37(269):263-7. doi: 10.1007/BF02807272.
10
Population screening.人群筛查
N Engl J Med. 2003 Apr 17;348(16):1604-5; author reply 1604-5. doi: 10.1056/NEJM200304173481619.

引用本文的文献

1
Treatment of homocystinuria with pyridoxine. A preliminary study.用吡哆醇治疗同型胱氨酸尿症。一项初步研究。
Arch Dis Child. 1969 Jun;44(235):387-92. doi: 10.1136/adc.44.235.387.
2
Psychiatric and biochemical aspects of a case of homocystinuria.一例同型胱氨酸尿症的精神和生化方面
J Neurol Neurosurg Psychiatry. 1969 Apr;32(2):88-93. doi: 10.1136/jnnp.32.2.88.
3
The detection of heterozygotes for homocystinuria by oral loading with L-methionine.
Biochem J. 1971 Mar;122(1):23P-24P. doi: 10.1042/bj1220023pb.
4
Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.同型胱氨酸尿症杂合子的检测。L-蛋氨酸负荷后血浆和尿液中含硫氨基酸的研究。
Arch Dis Child. 1974 Jul;49(7):553-9. doi: 10.1136/adc.49.7.553.
5
[A case of homocystinuria with predominating musculosceletal system].
Arch Orthop Unfallchir. 1973 Mar 26;75(2):121-30. doi: 10.1007/BF00416367.
6
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.

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: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.同型胱氨酸尿症：10例临床与病理回顾
J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.
3
HOMOCYSTINURIA, AN ERROR IN THE METABOLISM OF METHIONINE.同型胱氨酸尿症，一种甲硫氨酸代谢紊乱疾病。
Pediatrics. 1964 Mar;33:413-20.
4
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.
5
DISORDERS OF AMINO-ACID TRANSPORT.氨基酸转运障碍
Br Med J. 1964 Feb 8;1(5379):327-36. doi: 10.1136/bmj.1.5379.327.
6
THE AGGREGATION OF BLOOD PLATELETS.血小板的聚集
J Physiol. 1963 Aug;168(1):178-95. doi: 10.1113/jphysiol.1963.sp007185.
7
Effect of penicillamine on cystinuria.青霉胺对胱氨酸尿症的影响。
Br Med J. 1963 Mar 2;1(5330):588-90. doi: 10.1136/bmj.1.5330.588.
8
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.
9
Cystathioninuria.
N Engl J Med. 1963 Feb 14;268:333-9. doi: 10.1056/NEJM196302142680701.
10
Use of dimercaprol or pencillamine in the treatment of cystinosis.使用二巯丙醇或青霉胺治疗胱氨酸病。
Lancet. 1961 Oct 21;2(7208):909-10.

Treatment of homocystinuria.

作者信息

Chase H P, Goodman S I, O'Brien D

出版信息

Arch Dis Child. 1967 Oct;42(225):514-20. doi: 10.1136/adc.42.225.514.

DOI:10.1136/adc.42.225.514
PMID:6061292
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019813/
Abstract
摘要