Literature DB >> 1671131

Frequency of the G985 MCAD mutation in the general population.

A I Blakemore, H Singleton, R J Pollitt, P C Engel, S Kolvraa, N Gregersen, D Curtis.   

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Year:  1991        PMID： 1671131     DOI： 10.1016/0140-6736(91)90907-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  21 in total

1.  Inherited metabolic diseases in the sudden infant death syndrome.

Authors:  L J Smith
Journal:  Arch Dis Child       Date:  1992-05       Impact factor: 3.791

2.  The frequency of MCAD mutation (K329E) in the Finnish population.

Authors:  E I Schwartz; J Ilonen; N A Skobeleva; H K Akerblom
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

3.  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

4.  Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

Authors:  C Ged; H el Sebai; H de Verneuil; F Parrot-Rouleau
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 5.  Biochemical screening in newborn siblings of cases of SIDS.

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

6.  Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors:  N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.

Authors:  J M Penzien; G Molz; U N Wiesmann; J P Colombo; R Bühlmann; B Wermuth
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

8.  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

9.  Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.

Authors:  D P Kelly; D E Hale; S L Rutledge; M L Ogden; A J Whelan; Z Zhang; A W Strauss
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

10.  Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

Authors:  Z Zhang; S Kolvraa; Y Zhou; D P Kelly; N Gregersen; A W Strauss
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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