Literature DB >> 3141707

The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.

J W Seakins1, G Rumsby.   

Abstract

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Year:  1988        PMID： 3141707     DOI： 10.1007/bf01804241

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


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  6 in total

1.  A quantitative study of the oxidation of phenyl-fatty acids in the animal organism.

Authors:  H S Raper; E J Wayne
Journal:  Biochem J       Date:  1928       Impact factor: 3.857

2.  Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.

Authors:  N Gregersen; R Lauritzen; K Rasmussen
Journal:  Clin Chim Acta       Date:  1976-08-02       Impact factor: 3.786

3.  Excretion of dicarboxylic and omega-1 hydroxy fatty acids by low birth weight infants fed with medium-chain triglycerides.

Authors:  R K Whyte; D Whelan; R Hill; S McClorry
Journal:  Pediatr Res       Date:  1986-02       Impact factor: 3.756

4.  Effect of temperature and sample preparation on performance of ion-moderated partition chromatography of organic acids in biological fluids.

Authors:  G Rumsby; J Belloque; R S Ersser; J W Seakins
Journal:  Clin Chim Acta       Date:  1987-03-16       Impact factor: 3.786

5.  General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.

Authors:  N Gregersen; S Kølvraa; K Rasmussen; P B Mortensen; P Divry; M David; N Hobolth
Journal:  Clin Chim Acta       Date:  1983-08-15       Impact factor: 3.786

6.  Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

Authors:  C R Roe; D S Millington; D A Maltby; T P Bohan; S G Kahler; R A Chalmers
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756
  6 in total
  13 in total

1.  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

2.  Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M J Bennett; P M Coates; D E Hale; D S Millington; R J Pollitt; P Rinaldo; C R Roe; K Tanaka
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 3.  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

4.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors:  J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

5.  Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

Authors:  P T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

6.  Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Authors:  B S Andresen; T G Jensen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; J H Ding; Y T Chen; J L Van Hove
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

7.  The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.

Authors:  J F Glasgow; R Moore; P H Robinson; P J McKiernan
Journal:  Ir J Med Sci       Date:  1992-10       Impact factor: 1.568

8.  Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).

Authors:  A Green; M A Preece; C de Sousa; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

9.  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

Review 10.  Medium chain acyl-CoA dehydrogenase deficiency.

Authors:  E H Touma; C Charpentier
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791
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