Literature DB >> 1770781

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.

N Gregersen1, B S Andresen, P Bross, V Winter, N Rüdiger, S Engst, S Ghisla, E Christensen, D Kelly, A W Strauss.   

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Year:  1991        PMID： 1770781     DOI： 10.1007/bf01811691

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

Authors:  S Kølvraa; N Gregersen; E Christensen; N Hobolth
Journal:  Clin Chim Acta       Date:  1982-11-24       Impact factor: 3.786

2.  Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.

Authors:  D P Kelly; J J Kim; J J Billadello; B E Hainline; T W Chu; A W Strauss
Journal:  Proc Natl Acad Sci U S A       Date:  1987-06       Impact factor: 11.205

3.  Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli.

Authors:  P Bross; S Engst; A W Strauss; D P Kelly; I Rasched; S Ghisla
Journal:  J Biol Chem       Date:  1990-05-05       Impact factor: 5.157
  3 in total
  3 in total

1.  Prospective molecular and morphological assessment of testicular prepubertal-type teratomas in postpubertal men.

Authors:  Thomas Wagner; Glenda Scandura; Amy Roe; Luis Beltran; Jonathan Shamash; Costantine Alfrangis; Gedske Daugaard; Marianne Grantham; Daniel Berney
Journal:  Mod Pathol       Date:  2019-11-06       Impact factor: 7.842

2.  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

3.  Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Authors:  Catharina M L Touw; G Peter A Smit; Maaike de Vries; Johannis B C de Klerk; Annet M Bosch; Gepke Visser; Margot F Mulder; M Estela Rubio-Gozalbo; Bert Elvers; Klary E Niezen-Koning; Ronald J A Wanders; Hans R Waterham; Dirk-Jan Reijngoud; Terry G J Derks
Journal:  Orphanet J Rare Dis       Date:  2012-05-25       Impact factor: 4.123
  3 in total

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