Literature DB >> 6434863

Organic acids in urine: sample preparation for GC/MS.

C Bachmann, R Bühlmann, J P Colombo.   

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Year:  1984        PMID： 6434863     DOI： 10.1007/978-94-009-5612-4_37

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


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  8 in total

1.  beta-Ketothiolase deficiency with favourable evolution.

Authors:  G Sabetta; C Bachmann; O Giardini; M Castro; M Gambarara; C D Vici; K Bartlett; B Middleton
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Biotinidase deficiency: clinical course and biochemical findings.

Authors:  G Schubiger; U Caflisch; R Baumgartner; T Suormala; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Authors:  I Baric; L Wagner; P Feyh; M Liesert; W Buckel; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

4.  Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.

Authors:  J M Penzien; G Molz; U N Wiesmann; J P Colombo; R Bühlmann; B Wermuth
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

5.  Rett syndrome revisited: a patient with biotin dependency.

Authors:  C Bachmann; J Schaub; J P Colombo; B J Burri; L Sweetman; B Wolf
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

6.  Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Authors:  C Bannwart; B Wermuth; R Baumgartner; T Suormala; U N Weismann
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

7.  Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.

Authors:  P A Dremsek; M Sacher; W Stögmann; R Gitzelmann; C Bachmann
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

Review 8.  Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Authors:  Israa T Ismail; Megan R Showalter; Oliver Fiehn
Journal:  Metabolites       Date:  2019-10-21
  8 in total

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