Literature DB >> 7318836

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

F K Trefz, H Schmidt, B Tauscher, E Depène, R Baumgartner, G Hammersen, W Kochen.   

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Year:  1981        PMID： 7318836     DOI： 10.1007/bf00443254

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


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  11 in total

1.  Prenatal diagnosis of methylmalonic aciduria.

Authors:  M J Mahoney; L E Rosenberg; B Lindblad; J Waldenström; R Zetterström
Journal:  Acta Paediatr Scand       Date:  1975-01

2.  Prenatal diagnosis of methylmalonic aciduria.

Authors:  D Gompertz; P A Goodey; J M Saudubray; C Charpentier; A Chignolle; S Girard
Journal:  Pediatrics       Date:  1974-10       Impact factor: 7.124

3.  Pitfalls in the prenatal diagnosis of propionic acidemia.

Authors:  P D Buchanan; S G Kahler; L Sweetman; W L Nyhan
Journal:  Clin Genet       Date:  1980-09       Impact factor: 4.438

4.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

5.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

6.  Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia.

Authors:  E Nakamura; L E Rosenberg; K Tanaka
Journal:  Clin Chim Acta       Date:  1976-04-15       Impact factor: 3.786

Review 7.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Authors:  D Leupold
Journal:  Klin Wochenschr       Date:  1977-01-15

8.  Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.

Authors:  H D Bakker; A H van Gennip; M Duran; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-06-15       Impact factor: 3.786

9.  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

10.  Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

Authors:  E R Baumgartner; H Wick; J C Linnell; G E Gaull; C Bachmann; B Steinmann
Journal:  Helv Paediatr Acta       Date:  1979
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  4 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

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

Authors:  J Holm; L Ponders; L Sweetman
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Prenatal diagnosis of the organic acidurias.

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

4.  Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?

Authors:  J A Montgomery; O A Mamer; C R Scriver
Journal:  J Clin Invest       Date:  1983-12       Impact factor: 14.808
  4 in total

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