Literature DB >> 2080855

The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation.

M J Bennett1.   

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Year:  1990        PMID： 2080855     DOI： 10.1177/000456329002700602

Source DB:  PubMed          Journal:  Ann Clin Biochem        ISSN： 0004-5632            Impact factor:   2.057


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  10 in total

1.  Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.

Authors:  H R Scholte; J D Ross; W Blom; A M Boonman; O P van Diggelen; C L Hall; J G Huijmans; I E Luyt-Houwen; W J Kleijer; J B de Klerk
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; K H Carpenter; J Hammond
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

Review 3.  Biochemical screening in newborn siblings of cases of SIDS.

Authors:  A Green
Journal:  Arch Dis Child       Date:  1993-06       Impact factor: 3.791

4.  Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.

Authors:  P M Jones; A B Burlina; M J Bennett
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

5.  Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.

Authors:  J S Chickos; Barbara A Way; J Wilson; M Shaharuzzaman; J Laird; M Landt
Journal:  J Clin Lab Anal       Date:  2002       Impact factor: 2.352

6.  Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.

Authors:  R Moore; J F Glasgow; M A Bingham; J A Dodge; R J Pollitt; S E Olpin; B Middleton; K Carpenter
Journal:  Eur J Pediatr       Date:  1993-05       Impact factor: 3.183

7.  Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  D W Johnson; J R Harrison; W A Norton; A Poulos; E F Robertson
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  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

9.  Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues.

Authors:  Artem V Artiukhov; Aneta Grabarska; Ewelina Gumbarewicz; Vasily A Aleshin; Thilo Kähne; Toshihiro Obata; Alexey V Kazantsev; Nikolay V Lukashev; Andrzej Stepulak; Alisdair R Fernie; Victoria I Bunik
Journal:  Sci Rep       Date:  2020-02-05       Impact factor: 4.379

10.  Influence of Sex on Urinary Organic Acids: A Cross-Sectional Study in Children.

Authors:  Marianna Caterino; Margherita Ruoppolo; Guglielmo Rosario Domenico Villani; Emanuela Marchese; Michele Costanzo; Giovanni Sotgiu; Simone Dore; Flavia Franconi; Ilaria Campesi
Journal:  Int J Mol Sci       Date:  2020-01-16       Impact factor: 5.923
  10 in total

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