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 (Q56430900)

From Wikidata

Jump to navigation Jump to search

No description defined

Language	Label	Description	Also known as
English	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	No description defined

Statements

scholarly article

0 references

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)

0 references

1 reference

based on heuristic

inferred from title

Brage Storstein Andresen

object named as

Brage S Andresen

6

0 references

author name string

Stanley H Korman

1

0 references

Alisa Gutman

2

0 references

Rivka Brooks

3

0 references

Thayline Sinnathamby

4

0 references

Niels Gregersen

5

0 references

publication date

June 2004

0 references

Molecular Genetics and Metabolism

0 references

82

0 references

2

0 references

121-129

0 references

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

1 reference

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

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

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Diagnosis of inborn errors of metabolism by tandem mass spectrometry

1 reference

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

7 January 2021

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

1 reference

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

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

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

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

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

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

7 January 2021

Identifiers

10.1016/J.YMGME.2004.03.002

0 references

PubMed publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q56430900&oldid=2041753119"