(Q48551995)

English

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

scientific article published on 12 February 2005

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scholarly article

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Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

medium chain acyl-CoA dehydrogenase deficiency

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Rüdiger von Kries

10

object named as

Rüdiger von Kries

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12 February 2018

http://europepmc.org/abstract/MED/15896661

author name string

Uta Nennstiel-Ratzel

1

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Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

Stephan Arenz

2

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Esther M Maier

3

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Ina Knerr

4

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Joachim Baumkötter

5

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Wulf Röschinger

6

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Bernhard Liebl

7

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Hans-Beat Hadorn

8

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Adelbert A Roscher

9

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12 February 2018

http://europepmc.org/abstract/MED/15896661

publication date

12 February 2005

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12 February 2018

http://europepmc.org/abstract/MED/15896661

Molecular Genetics and Metabolism

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12 February 2018

http://europepmc.org/abstract/MED/15896661

85

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12 February 2018

http://europepmc.org/abstract/MED/15896661

2

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12 February 2018

http://europepmc.org/abstract/MED/15896661

157-159

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Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

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/10.1016%2FJ.YMGME.2004.12.010

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.2004.12.010

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Expanding newborn screening: how good is the evidence?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.12.010

7 January 2021

Identifiers

10.1016/J.YMGME.2004.12.010

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

release_dvtruwqi5nbw7ozjyfh2aszwfa

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https://api.fatcat.wiki/v0/release/dvtruwqi5nbw7ozjyfh2aszwfa

24 November 2022

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PubMed publication ID

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Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/15896661

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