(Q56430900)

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Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

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scholarly article

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Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro (English)

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Brage Storstein Andresen

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Brage S Andresen

6

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author name string

Stanley H Korman

1

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Alisa Gutman

2

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Rivka Brooks

3

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Thayline Sinnathamby

4

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Niels Gregersen

5

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publication date

June 2004

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Molecular Genetics and Metabolism

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82

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121-129

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2

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Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

1 reference

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7 January 2021

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

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7 January 2021

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

1 reference

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The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots

1 reference

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A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

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7 January 2021

Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes

1 reference

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Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid

1 reference

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7 January 2021

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

1 reference

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Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene

1 reference

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Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

1 reference

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Diagnosis of inborn errors of metabolism by tandem mass spectrometry

1 reference

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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

1 reference

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7 January 2021

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

1 reference

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7 January 2021

Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

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7 January 2021

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings

1 reference

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A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition

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A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death

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Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families

1 reference

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

1 reference

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7 January 2021

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

Modifier genes convert "simple" Mendelian disorders to complex traits

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.03.002

7 January 2021

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

1 reference

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7 January 2021

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10.1016/J.YMGME.2004.03.002

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