(Q41861654)

English

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

scientific article published on 22 September 2011

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430868%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430868%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

based on heuristic

inferred from title

Brage Storstein Andresen

8

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24 February 2020

2

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24 February 2020

10

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24 February 2020

author name string

Luise Borch

1

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24 February 2020

Flemming Wibrand

3

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24 February 2020

Ernst Christensen

4

1 reference

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24 February 2020

Charlotte Søndergaard

5

1 reference

Europe PubMed Central

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24 February 2020

Birthe Gahrn

6

1 reference

Europe PubMed Central

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24 February 2020

David Michael Hougaard

7

1 reference

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24 February 2020

Niels Gregersen

9

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24 February 2020

publication date

22 September 2011

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24 February 2020

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

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24 February 2020

3

1 reference

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24 February 2020

11-15

1 reference

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24 February 2020

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

5 June 2018

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

5 June 2018

Topology of carnitine palmitoyltransferase I in the mitochondrial outer membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

5 June 2018

Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509854

18 August 2018

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2011_35

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430868%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430868%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430868%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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