Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

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作者信息

Kvittingen E A, Guibaud P P, Divry P, Mandon G, Rolland M O, Domenichini Y, Jakobs C, Christensen E

出版信息

Eur J Pediatr. 1986 Apr;144(6):597-8. doi: 10.1007/BF00496047.

DOI:10.1007/BF00496047

PMID:3709578

Abstract

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Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.

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Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.

Pediatr Res. 1983 Jul;17(7):541-4. doi: 10.1203/00006450-198307000-00005.

Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.

Eur J Pediatr. 1985 Jul;144(2):209-10. doi: 10.1007/BF00451920.

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.

Pediatr Res. 1985 Apr;19(4):334-7. doi: 10.1203/00006450-198519040-00002.

Early prenatal diagnosis of hereditary tyrosinaemia.

Lancet. 1985 May 4;1(8436):1038. doi: 10.1016/s0140-6736(85)91633-2.

Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

Lancet. 1985 Mar 2;1(8427):527. doi: 10.1016/s0140-6736(85)92132-4.

On the enzymic defects in hereditary tyrosinemia.

Proc Natl Acad Sci U S A. 1977 Oct;74(10):4641-5. doi: 10.1073/pnas.74.10.4641.

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