(Q35220712)

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Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation

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scholarly article

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Europe PubMed Central

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29 February 2020

Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25665836%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Olav Wendelboe Nielsen

7

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29 February 2020

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author name string

J Rasmussen

1

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29 February 2020

J A Thomsen

2

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29 February 2020

J H Olesen

3

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29 February 2020

T M Lund

4

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29 February 2020

M Mohr

5

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29 February 2020

J Clementsen

6

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29 February 2020

A M Lund

8

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29 February 2020

publication date

10 February 2015

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29 February 2020

Journal of Inherited Metabolic Disorders Reports

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29 February 2020

20

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29 February 2020

103-111

1 reference

Europe PubMed Central

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29 February 2020

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine and acylcarnitines: pharmacokinetic, pharmacological and clinical aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Role of carnitine in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Disorders of carnitine transport and the carnitine cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine deficiency disorders in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Kinetics, pharmacokinetics, and regulation of L-carnitine and acetyl-L-carnitine metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine: a nutritional, biosynthetic, and functional perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine transport: pathophysiology and metabolism of known molecular defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Percutaneous needle biopsy of skeletal muscle in physiological and clinical research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

13 July 2018

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

26 September 2018

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

26 September 2018

Determination of the reference range of endogenous plasma carnitines in healthy adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

26 September 2018

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

26 September 2018

Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375125

26 September 2018

Pharmacokinetics of L-carnitine in patients with end-stage renal disease undergoing long-term hemodialysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients With Medium-Chain Acyl–Coenzyme A Dehydrogenase Deficiency Have Impaired Oxidation of Fat During Exercise but No Effect ofl-Carnitine Supplementation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary systemic carnitine deficiency. II. Renal handling of carnitine

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal adaptation to dietary carnitine in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/25665836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2014_398

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25665836%20AND%20SRC:MED&resulttype=core&format=json

29 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:25665836%20AND%20SRC:MED&resulttype=core&format=json

29 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:25665836%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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