(Q35400586)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

1

1 reference

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7 February 2020

author name string

Matthew Hirschfeld

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Sarah Lowe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Dietrich Matern

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

James Shoemaker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

William E Lambert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

David M Koeller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

28 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

7 February 2020

published in

1 reference

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7 February 2020

volume

104

1 reference

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7 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

261-264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

The descriptive epidemiology of sudden infant deaths among natives and whites in Alaska

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

The sudden infant death syndrome among Alaskan natives

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Effect of fasting on free and esterified carnitine levels in human serum and urine: Correlation with serum levels of free fatty acids and β-hydroxybutyrate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Acylcarnitine analysis by tandem mass spectrometry

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3197793

Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.017

10.1016/J.YMGME.2011.06.017

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763168%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

21763168

1 reference