Literature DB >> 3123781

The incidence and presentation of dicarboxylic aciduria.

M J Bennett1, E Worthy, R J Pollitt.   

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Year:  1987        PMID: 3123781     DOI: 10.1007/bf01800069

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


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  2 in total

1.  Fatty acid beta-oxidation defects and sudden infant death.

Authors:  J P Harpey; C Charpentier; M Paturneau-Jouas
Journal:  Lancet       Date:  1987-01-17       Impact factor: 79.321

2.  The routine investigation of urinary organic acids in selected paediatric patients: results over a 2 1/2-year period.

Authors:  M J Bennett; A Green; R J Pollitt; E Worthy
Journal:  Ann Clin Biochem       Date:  1984-01       Impact factor: 2.057

  2 in total
  4 in total

1.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Authors:  I Yokota; P M Coates; D E Hale; P Rinaldo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

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.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

4.  Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.

Authors:  R Chakraborty; M R Srinivasan; S Raskin
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

  4 in total

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