Literature DB >> 2512423

Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.

J Holm1, L Ponders, L Sweetman.   

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Year:  1989        PMID： 2512423     DOI： 10.1007/bf03335395

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


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  4 in total

1.  First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.

Authors:  W J Kleijer; R Thoomes; H Galjaard; U Wendel; B Fowler
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

2.  The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.

Authors:  A B Zinn; D G Hine; M J Mahoney; K Tanaka
Journal:  Pediatr Res       Date:  1982-09       Impact factor: 3.756

3.  Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.

Authors:  F K Trefz; H Schmidt; B Tauscher; E Depène; R Baumgartner; G Hammersen; W Kochen
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

4.  Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.

Authors:  G Naylor; L Sweetman; W L Nyhan; C Hornbeck; J Griffiths; L Mörch; S Brandänge
Journal:  Clin Chim Acta       Date:  1980-11-06       Impact factor: 3.786
  4 in total
  3 in total

1.  Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.

Authors:  A Kumps; E Vamos; Y Mardens; M Abramowicz; J Genin; P Duez
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 2.  Prenatal diagnosis of inherited metabolic diseases.

Authors:  R Diukman; J D Goldberg
Journal:  West J Med       Date:  1993-09

3.  Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.

Authors:  J L Van Hove; D H Chace; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  3 in total

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