Literature DB >> 3709578

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

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

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Year:  1986        PMID： 3709578     DOI： 10.1007/bf00496047

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

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

Authors:  E Holme; B Lindblad; S Lindstedt
Journal:  Lancet       Date:  1985-03-02       Impact factor: 79.321

2.  Early prenatal diagnosis of hereditary tyrosinaemia.

Authors:  B R Pettit; E A Kvittingen; J V Leonard
Journal:  Lancet       Date:  1985-05-04       Impact factor: 79.321

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

Authors:  C Jakobs; E A Kvittingen; R Berger; A Haagen; W Kleijer; M Niermeijer
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

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

Authors:  E A Kvittingen; B Steinmann; R Gitzelmann; J V Leonard; G Andria; A L Børresen; J Mossman; G Micara; B Lindblad
Journal:  Pediatr Res       Date:  1985-04       Impact factor: 3.756

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

Authors:  E A Kvittingen; S Halvorsen; E Jellum
Journal:  Pediatr Res       Date:  1983-07       Impact factor: 3.756

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

Authors:  R Gagné; A Lescault; A Grenier; C Laberge; S B Mélançon; L Dallaire
Journal:  Prenat Diagn       Date:  1982-07       Impact factor: 3.050

7.  On the enzymic defects in hereditary tyrosinemia.

Authors:  B Lindblad; S Lindstedt; G Steen
Journal:  Proc Natl Acad Sci U S A       Date:  1977-10       Impact factor: 11.205
  7 in total
  2 in total

1.  Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: review of four years experience.

Authors:  C Jakobs
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

Authors:  D Phaneuf; Y Labelle; D Bérubé; K Arden; W Cavenee; R Gagné; R M Tanguay
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  2 in total

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