(Q51974721)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

medium chain acyl-CoA dehydrogenase deficiency

11 January 2020

main subject

Netherlands

0 references

0 references

author

Terry G J Derks

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Marinus Duran

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Hans R Waterham

3

1 reference

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11 January 2020

Dirk-Jan Reijngoud

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Leo P Ten Kate

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

G Peter A Smit

6

1 reference

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11 January 2020

publication date

1 August 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15870827%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 January 2020

published in

1 reference

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11 January 2020

volume

13

1 reference

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11 January 2020

issue

8

1 reference

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11 January 2020

page(s)

947-952

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201428

11 January 2020

exact match

0 references

cites work

Medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

The ?singles? method for segregation analysis under incomplete ascertainment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

Characterization of organic cation/carnitine transporter family in human sperm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

7 January 2021

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

7 January 2021

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

7 January 2021

Pulse oximetry for continuous oxygen monitoring in sick newborn infants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

7 January 2021

Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201428

7 January 2021