Literature DB >> 7807933

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

R J Pollitt1, N J Manning, S E Olpin, I D Young.   

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Year:  1994        PMID： 7807933     DOI： 10.1007/bf00711807

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


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  9 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.  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 3.  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

Review 4.  Medium-chain triglycerides in formula for preterm neonates: implications for hepatic and extrahepatic metabolism.

Authors:  P R Borum
Journal:  J Pediatr       Date:  1992-04       Impact factor: 4.406

Review 5.  Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1989       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.  Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.

Authors:  S E Olpin; N J Manning; K Carpenter; B Middleton; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  M J Bennett; F Allison; G W Lowther; R G Gray; D I Johnston; J S Fitzsimmons; N J Manning; R J Pollitt
Journal:  Prenat Diagn       Date:  1987-02       Impact factor: 3.050

9.  Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.

Authors:  M J Bennett; D A Curnock; P C Engel; L Shaw; R G Gray; D Hull; A D Patrick; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
  9 in total
  1 in total

Review 1.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  1 in total

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