(Q48142317)

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

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scholarly article

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

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

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

medium chain acyl-CoA dehydrogenase deficiency

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object named as

Nils Krone

8

0 references

Rüdiger von Kries

9

object named as

Rüdiger v Kries

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

author name string

Esther M Maier

1

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Bernhard Liebl

2

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Wulf Röschinger

3

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Uta Nennstiel-Ratzel

4

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Ralph Fingerhut

5

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Bernhard Olgemöller

6

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Ulrich Busch

7

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

Adelbert A Roscher

10

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

publication date

1 May 2005

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

25

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

443-452

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

5

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

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/10.1002%2FHUMU.20163

21 January 2018

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/10.1002%2FHUMU.20163

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Genetic screening of newborns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Molecular and functional characterisation of mild MCAD deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

21 January 2018

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial deficiency of galactose-1-phosphate uridyltransferase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20163

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20163

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

release_bqwtpexotbh2db2nk6myrd5aoe

1 reference

https://api.fatcat.wiki/v0/release/bqwtpexotbh2db2nk6myrd5aoe

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

9 February 2018

http://europepmc.org/abstract/MED/15832312

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