Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis (Q34459489)

24798266

2 August 2017

title

Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis (English)

1 reference

2 August 2017

1 reference

1

1 reference

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2 June 2020

Elisabeth A Cornelissen

2

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2 June 2020

David Cassiman

3

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2 June 2020

author name string

L Kluijtmans

4

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2 June 2020

L van den Heuvel

5

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2 June 2020

E Levtchenko

6

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2 June 2020

publication date

6 May 2014

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24798266

Journal of Inherited Metabolic Disorders Reports

2 August 2017

published in

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2 June 2020

volume

16

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2 June 2020

page(s)

25-30

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Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis

2 June 2020

cites work

1 reference

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Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models

6 July 2018

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Identification of a novel organic anion transporter mediating carnitine transport in mouse liver and kidney

6 July 2018

1 reference

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New equations to estimate GFR in children with CKD

6 July 2018

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Risk assessment for carnitine

6 July 2018

1 reference

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Trimethylamine: metabolic, pharmacokinetic and safety aspects

6 July 2018

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Mitochondrial beta-oxidation

6 July 2018

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6 July 2018

1 reference

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Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221611

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

6 July 2018

1 reference

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

6 July 2018

1 reference

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Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

6 July 2018

1 reference

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The renal handling of carnitine in patients with selective tubulopathy and with Fanconi syndrome.

6 July 2018

1 reference

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Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

6 July 2018

1 reference

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Carnitine deficiency syndromes

6 July 2018

1 reference

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Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221611

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

27 October 2018

1 reference

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Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy

27 October 2018

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12 December 2020

Carnitine and choline supplementation with exercise alter carnitine profiles, biochemical markers of fat metabolism and serum leptin concentration in healthy women

1 reference

12 December 2020

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

1 reference

12 December 2020

Large variations in skeletal muscle carnitine level fail to modify energy metabolism in exercising rats

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2014_312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24798266%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

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2 June 2020

24798266

1 reference

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