Literature DB >> 1866359

Postmortem recognition of fatty acid oxidation disorders.

M J Bennett1, D E Hale, P M Coates, C A Stanley.   

Abstract

With an appropriate protocol for collection, storage, and sample analysis, it should be possible to ensure correct diagnosis of disorders of fatty acid oxidation presenting to the pathologist. Appropriate counseling of affected families will lead to presymptomatic sibling diagnosis of these frequently treatable disorders, which, in turn, can prevent the catastrophic metabolic consequences of the disorders.

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Year:  1991        PMID: 1866359     DOI: 10.3109/15513819109064772

Source DB:  PubMed          Journal:  Pediatr Pathol        ISSN: 0277-0938


  3 in total

1.  Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death.

Authors:  Jeremy W Pryce; Martin A Weber; Simon Heales; Steve Krywawych; Michael T Ashworth; Nigel J Klein; Neil J Sebire
Journal:  Forensic Sci Med Pathol       Date:  2012-01-14       Impact factor: 2.007

2.  Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test.

Authors:  D L Renaud; V Edwards; G J Wilson; I Tein
Journal:  J Inherit Metab Dis       Date:  2002-11       Impact factor: 4.982

Review 3.  New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders.

Authors:  P M Coates
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

  3 in total

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