经典型半乳糖血症的诊断
Diagnosis of classical galactosaemia.
作者信息
Monk A M, Mitchell A J, Milligan D W, Holton J B
出版信息
Arch Dis Child. 1977 Dec;52(12):943-6. doi: 10.1136/adc.52.12.943.
Abstract
We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.
摘要
我们报告了一名患有经典型半乳糖血症的儿童，其诊断直到12周龄时才被发现。本文讨论了尿液筛查试验的局限性，并建议更广泛地使用定性酶测定法进行筛查。同时给出了以1-磷酸半乳糖为底物的定量酶测定法的参考范围。
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Arch Dis Child. 1977 Dec;52(12):943-6. doi: 10.1136/adc.52.12.943.
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Is unselective biochemical urine testing cost effective?非选择性生化尿液检测具有成本效益吗？
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本文引用的文献
1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Variability in the clinical manifestations of galactosemia.半乳糖血症临床表现的变异性。
J Pediatr. 1961 Dec;59:872-83. doi: 10.1016/s0022-3476(61)80317-x.
3
Galactosemia screening of newborns in Massachusetts.马萨诸塞州新生儿半乳糖血症筛查
N Engl J Med. 1971 Apr 8;284(14):753-7. doi: 10.1056/NEJM197104082841404.
4
Letter: Negative urine sugars in galactosemia.信函：半乳糖血症患者尿糖阴性
Pediatrics. 1974 May;53(5):768.
5
A simple spot screening test for galactosemia.一种用于半乳糖血症的简单点筛试验。
J Lab Clin Med. 1966 Jul;68(1):137-41.
6
Letter: Decrease of HB-s Ag titers after repeated freezing and thawing.信函：反复冻融后乙肝表面抗原滴度的降低
N Engl J Med. 1975 Apr 24;292(17):924-5. doi: 10.1056/NEJM197504242921717.
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