Literature DB >> 7833941

Amino acid polymorphism (Gly209Ser) in the ACADS gene.

M J Kristensen1, S Kmoch, P Bross, B S Andresen, N Gregersen.   

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Year:  1994        PMID： 7833941     DOI： 10.1093/hmg/3.9.1711-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

1.  Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.

Authors:  S Kmoch; J Zeman; M Hrebícek; L Ryba; M J Kristensen; N Gregersen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

2.  Structural organization of the human short-chain acyl-CoA dehydrogenase gene.

Authors:  M J Corydon; B S Andresen; P Bross; M Kjeldsen; P H Andreasen; H Eiberg; S Kølvraa; N Gregersen
Journal:  Mamm Genome       Date:  1997-12       Impact factor: 2.957

Review 3.  Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Authors:  Zahra Nochi; Rikke Katrine Jentoft Olsen; Niels Gregersen
Journal:  J Inherit Metab Dis       Date:  2017-05-17       Impact factor: 4.982

Review 4.  Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Authors:  Bianca T van Maldegem; Ronald J A Wanders; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-04-29       Impact factor: 4.982

5.  The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Authors:  Christina B Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J Corydon; Brage S Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen
Journal:  Hum Genet       Date:  2008-06-04       Impact factor: 4.132
  5 in total

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