Literature DB >> 1972503

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.

Y Matsubara, K Narisawa, S Miyabayashi, K Tada, P M Coates.   

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Year:  1990        PMID： 1972503     DOI： 10.1016/0140-6736(90)91413-5

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


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  18 in total

1.  Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.

Authors:  R W Taylor; S Jackson; M Pourfarzam; K Bartlett; D M Turnbull
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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.  The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population.

Authors:  C Szalai; A Czinner; K Revai
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

4.  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Authors:  Kristi Bentler; Shaohui Zhai; Sara A Elsbecker; Georgianne L Arnold; Barbara K Burton; Jerry Vockley; Cynthia A Cameron; Sally J Hiner; Mathew J Edick; Susan A Berry
Journal:  Mol Genet Metab       Date:  2016-07-15       Impact factor: 4.797

5.  Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

Authors:  W Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; F J Gabreëls
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-02       Impact factor: 10.154

6.  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

7.  A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Authors:  B S Andresen; P Bross; T G Jensen; V Winter; I Knudsen; S Kølvraa; U B Jensen; L Bolund; M Duran; J J Kim
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

8.  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

9.  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

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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