Literature DB >> 2512422

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

C Jakobs1.   

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Year:  1989        PMID： 2512422     DOI： 10.1007/bf03335394

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 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.  Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia.

Authors:  C Jakobs; W J Kleijer; H D Bakker; A H van Gennip; H Przyrembel; M F Niermeijer
Journal:  Prenat Diagn       Date:  1988-11       Impact factor: 3.050

3.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.

Authors:  C Jakobs; T G Warner; L Sweetman; W L Nyhan
Journal:  Pediatr Res       Date:  1984-08       Impact factor: 3.756

5.  Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.

Authors:  C Jakobs; L Sweetman; S K Wadman; M Duran; J M Saudubray; W L Nyhan
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

6.  Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.

Authors:  C Jakobs; L Dorland; B Wikkerink; R M Kok; A P de Jong; S K Wadman
Journal:  Clin Chim Acta       Date:  1988-02-15       Impact factor: 3.786

7.  Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia.

Authors:  D G Hine; A M Hack; S I Goodman; K Tanaka
Journal:  Pediatr Res       Date:  1986-03       Impact factor: 3.756

8.  First trimester diagnosis of methylmalonic aciduria.

Authors:  B Fowler; L Giles; I B Sardharwalla; P Donnai; J K Clayton
Journal:  Prenat Diagn       Date:  1988-03       Impact factor: 3.050

9.  Antenatal diagnosis of glutaric acidemia.

Authors:  S I Goodman; D A Gallegos; C J Pullin; B Halpern; R J Truscott; G Wise; B Wilcken; E D Ryan; D T Whelen
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025
  9 in total
  4 in total

1.  Glutaric aciduria type I: pathomechanisms of neurodegeneration.

Authors:  K Ullrich; B Flott-Rahmel; P Schluff; U Musshoff; A Das; T Lücke; R Steinfeld; E Christensen; C Jakobs; A Ludolph; A Neu; R Röper
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 2.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

3.  A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

Authors:  W Blom; J G Huijmans; G B van den Berg
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Authors:  E Mayatepek; G F Hoffmann; R Baumgartner; A Schulze; C Jakobs; F K Trefz; H J Bremer
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183
  4 in total

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