Literature DB >> 2391601

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples.

D H Morton1, R I Kelley.   

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Year:  1990        PMID： 2391601     DOI： 10.1016/s0022-3476(05)81091-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  4 in total

Review 1.  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

2.  Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.

Authors:  A Iolascon; T Parrella; S Perrotta; O Guardamagna; P M Coates; M Sartore; S Surrey; P Fortina
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

3.  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

4.  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
  4 in total

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