Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
作者信息
Holme E, Lindblad B, Lindstedt S
出版信息
Lancet. 1985 Mar 2;1(8427):527. doi: 10.1016/s0140-6736(85)92132-4.
PMID:2857895
Abstract
摘要
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引用本文的文献
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Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.
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Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.
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Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
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