(Q46807451)

25 December 2017

title

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations (English)

1 reference

25 December 2017

medium chain acyl-CoA dehydrogenase deficiency

main subject

0 references

1 reference

Brage Storstein Andresen

6

1 reference

25 December 2017

author name string

Leigh Waddell

1

1 reference

25 December 2017

Veronica Wiley

2

1 reference

25 December 2017

Kevin Carpenter

3

1 reference

25 December 2017

Bruce Bennetts

4

1 reference

25 December 2017

Lyn Angel

5

1 reference

25 December 2017

Bridget Wilcken

7

1 reference

25 December 2017

publication date

15 November 2005

1 reference

25 December 2017

Molecular Genetics and Metabolism

published in

1 reference

25 December 2017

volume

87

1 reference

25 December 2017

issue

1

1 reference

25 December 2017

page(s)

32-39

1 reference

25 December 2017

Common MCAD mutation in a healthy parent of two affected siblings

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Molecular and functional characterisation of mild MCAD deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.020

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2005.09.020

1 reference

25 December 2017

1 reference

25 December 2017