(Q41195022)

28 September 2017

title

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase (English)

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28 September 2017

author

Brage Storstein Andresen

9

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28 September 2017

P Bross

10

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author name string

M J Corydon

1

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28 September 2017

N Gregersen

2

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28 September 2017

W Lehnert

3

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28 September 2017

A Ribes

4

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28 September 2017

P Rinaldo

5

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28 September 2017

S Kmoch

6

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28 September 2017

E Christensen

7

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28 September 2017

T J Kristensen

8

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28 September 2017

V Winter

11

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28 September 2017

G Martinez

12

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28 September 2017

S Neve

13

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28 September 2017

T G Jensen

14

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28 September 2017

L Bolund

15

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28 September 2017

S Kølvraa

16

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28 September 2017

language of work or name

English

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publication date

1 June 1996

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28 September 2017

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28 September 2017

volume

39

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28 September 2017

issue

6

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28 September 2017

page(s)

1059-1066

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Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

28 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

GroE heat-shock proteins promote assembly of foreign prokaryotic ribulose bisphosphate carboxylase oligomers in Escherichia coli.

21 January 2018

1 reference

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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A rapid, sensitive method for detection of alkaline phosphatase-conjugated anti-antibody on Western blots.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Successive action of DnaK, DnaJ and GroEL along the pathway of chaperone-mediated protein folding

21 January 2018

1 reference

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Protein folding in the cell

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

The general concept of molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

21 January 2018

1 reference

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The direct linear plot. A new graphical procedure for estimating enzyme kinetic parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199606000-00021

10.1203/00006450-199606000-00021

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

28 September 2017

1064208441

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1 reference