Literature DB >> 1975917

Mutations in medium chain acyl-CoA dehydrogenase deficiency.

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Year:  1990        PMID： 1975917

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


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  8 in total

1.  Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Authors:  J H Ding; B Z Yang; Y Bao; C R Roe; Y T Chen
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

2.  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

3.  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

4.  Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

Authors:  N Kamatani; M Hakoda; S Otsuka; H Yoshikawa; S Kashiwazaki
Journal:  J Clin Invest       Date:  1992-07       Impact factor: 14.808

5.  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

6.  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

7.  Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.

Authors:  S J Heales; D A Woolf; P Robinson; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  J J Pitt
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  8 in total

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