Literature DB >> 4043138

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

C Jakobs, E A Kvittingen, R Berger, A Haagen, W Kleijer, M Niermeijer.   

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Year:  1985        PMID： 4043138     DOI： 10.1007/bf00451920

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


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  8 in total

1.  Prenatal diagnosis of hereditary tyrosinemia.

Authors:  B Steinmann; R Gitzelmann; E A Kvittingen; O Stokke
Journal:  N Engl J Med       Date:  1984-03-29       Impact factor: 91.245

2.  The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.

Authors:  B R Pettit; F MacKenzie; G S King; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Prenatal diagnosis of hereditary tyrosinaemia confirmed.

Authors:  R Gagné; A Lescault; A Grenier; C Laberge
Journal:  Prenat Diagn       Date:  1982-10       Impact factor: 3.050

4.  Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring.

Authors:  C Jakobs; L Sweetman; W L Nyhan
Journal:  Prenat Diagn       Date:  1984 May-Jun       Impact factor: 3.050

5.  Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.

Authors:  R Berger; G P Smit; S A Stoker-de Vries; M Duran; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1981-07-18       Impact factor: 3.786

6.  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

7.  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

8.  Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia.

Authors:  R Berger; H van Faassen; G P Smith
Journal:  Clin Chim Acta       Date:  1983-10-31       Impact factor: 3.786
  8 in total
  3 in total

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

Authors:  E A Kvittingen; P P Guibaud; P Divry; G Mandon; M O Rolland; Y Domenichini; C Jakobs; E Christensen
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

2.  Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.

Authors:  Bijo Varughese; Dnyanoba Madrewar; Sunil Kumar Polipalli; Seema Kapoor
Journal:  Indian J Clin Biochem       Date:  2021-01-06

3.  Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis.

Authors:  M Wabitsch; F Pohlandt; D Leupold; R Berger; E Mönch; E Heinze; W Teller
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183
  3 in total

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