Literature DB >> 1977955

The detection of abnormal metabolites in MCAD deficiency: a new method.

W Blom1, A C Polder-Mol, H H Kelholt-Dijkman, L Hierck, J G Huijmans.   

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Year:  1990        PMID： 1977955     DOI： 10.1007/bf01799384

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


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  8 in total

1.  A simple screening test for medium-chain acyl CoA dehydrogenase deficiency.

Authors:  G Rumsby; J W Seakins; J V Leonard
Journal:  Lancet       Date:  1986-08-23       Impact factor: 79.321

2.  Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M Duran; L Bruinvis; D Ketting; J B de Klerk; S K Wadman
Journal:  Clin Chem       Date:  1988-03       Impact factor: 8.327

3.  Mass spectrometric identification of abnormal aromatic compounds in the urine of a child with Reye's like syndrome.

Authors:  F Rocchiccioli; P H Cartier; P F Bougnères
Journal:  Biomed Mass Spectrom       Date:  1984-03

4.  In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

Authors:  S Kølvraa; N Gregersen; E Christensen; N Hobolth
Journal:  Clin Chim Acta       Date:  1982-11-24       Impact factor: 3.786

Review 5.  The inborn errors of mitochondrial fatty acid oxidation.

Authors:  C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

Authors:  P Rinaldo; J J O'Shea; P M Coates; D E Hale; C A Stanley; K Tanaka
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

7.  The differential diagnosis of dicarboxylic aciduria.

Authors:  M Duran; J B De Klerk; S K Wadman; L Bruinvis; D Ketting
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Authors:  C R Roe; D S Millington; D A Maltby; T P Bohan; S G Kahler; R A Chalmers
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756
  8 in total
  4 in total

1.  Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Authors:  W Blom; J G Huijmans
Journal:  Amino Acids       Date:  1992-02       Impact factor: 3.520

2.  Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  R Libert; F Van Hoof; M Thillaye; M F Vincent; M C Nassogne; V Stroobant; E de Hoffmann; A Schanck
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

Review 3.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

4.  Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  J J Pitt
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  4 in total

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