Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. (Q46813109)

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English	Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.	scientific article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18188679%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18188679%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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medium chain acyl-CoA dehydrogenase deficiency

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Terry G J Derks

1

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31 December 2019

Klary E Niezen-Koning

7

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31 December 2019

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T S Boer

2

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31 December 2019

A van Assen

3

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31 December 2019

T Bos

4

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31 December 2019

J Ruiter

5

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31 December 2019

H R Waterham

6

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31 December 2019

R J A Wanders

8

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31 December 2019

J M M Rondeel

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31 December 2019

J G Loeber

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31 December 2019

L P Ten Kate

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31 December 2019

G P A Smit

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31 December 2019

D-J Reijngoud

13

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31 December 2019

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14 January 2008

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31 December 2019

Journal of Inherited Metabolic Disease

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31 December 2019

31

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31 December 2019

1

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31 December 2019

88-96

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Europe PubMed Central

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31 December 2019

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0492-3

21 January 2018

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific assay of medium-chain acyl-CoA dehydrogenase based on the spectrophotometric measurement of product formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Jaundice in the healthy newborn infant: a new approach to an old problem

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and functional characterisation of mild MCAD deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The Dutch Pediatric Surveillance System; a quality focused instrument for prevention and research]

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/18188679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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