Literature DB >> 9266368

Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.

C E Mize1, L J Waber, T Anderson, M J Bennett.   

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Year:  1997        PMID: 9266368     DOI: 10.1023/a:1005354701187

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


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  12 in total

1.  A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease.

Authors:  C G Costa; N M Verhoeven; C M Kneepkens; A C Douwes; R J Wanders; I T de Almeida; M Duran; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria.

Authors:  R J Pollitt
Journal:  Prog Clin Biol Res       Date:  1990

4.  The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  D E Hale; C Thorpe; K Braat; J H Wright; C R Roe; P M Coates; T Hashimoto; A M Glasgow
Journal:  Prog Clin Biol Res       Date:  1990

5.  Urinary excretion of C6-C10 dicarboxylic acids in glycogen storage disease types I and 3.

Authors:  J Dosman; J C Crawhall; G A Klassen; O A Mamer; P Neumann
Journal:  Clin Chim Acta       Date:  1974-02-28       Impact factor: 3.786

6.  Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

Authors:  E Mayatepek; R J Wanders; M Becker; H J Bremer; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.

Authors:  M J Bennett; W G Sherwood
Journal:  Clin Chem       Date:  1993-05       Impact factor: 8.327

8.  3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

Authors:  L Hagenfeldt; U von Döbeln; E Holme; J Alm; G Brandberg; E Enocksson; L Lindeberg
Journal:  J Pediatr       Date:  1990-03       Impact factor: 4.406

9.  Comparison of post-mortem urinary and vitreous humour organic acids.

Authors:  M J Bennett; M C Ragni; I Hood; D E Hale
Journal:  Ann Clin Biochem       Date:  1992-09       Impact factor: 2.057

10.  Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  M J Bennett; M J Weinberger; W G Sherwood; A B Burlina
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

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  1 in total

Review 1.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

  1 in total

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