(Q35809990)

10 August 2017

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome (English)

1 reference

10 August 2017

Gahl WA

1

1 reference

10 August 2017

Bernardini I

2

1 reference

10 August 2017

Dalakas M

3

1 reference

10 August 2017

Rizzo WB

4

1 reference

10 August 2017

Harper GS

5

1 reference

10 August 2017

Hoeg JM

6

1 reference

10 August 2017

Hurko O

7

1 reference

10 August 2017

Bernar J

8

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 February 1988

1 reference

Journal of Clinical Investigation

10 August 2017

1 reference

10 August 2017

81

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10 August 2017

2

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10 August 2017

549-560

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Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Absorption of D- and L-carnitine by the intestine and kidney tubule in the rat.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Free and total carnitine in human serum after oral ingestion of L-carnitine.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Carnitine metabolism and deficiency syndromes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Markers for gene expression in cultured cells from the nervous system.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Concentration of carnitine in human muscle tissue.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Measurement of protein using bicinchoninic acid

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Carnitine transport in human intestinal biopsy specimens. Demonstration of an active transport system.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Cysteamine therapy for children with nephropathic cystinosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Cystinosis coming of age.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

A quantitative technique for growing human adult skeletal muscle in culture starting from mononucleated cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

The effect of sulfhydryl blocking agents on the uptake of l-carnitine in an established human cell line (CCL 27)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329603

Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases

25 September 2018

1 reference

12 December 2020

Significance of dietary carnitine for growth and carnitine turnover in rats

1 reference

12 December 2020

An improved and simplified radioisotopic assay for the determination of free and esterified carnitine

1 reference

12 December 2020

Hypolipaemic effect of carnitine in uraemic patients

1 reference

12 December 2020

Lipid-lowering effect of carnitine in chronically uremic patients treated with maintenance hemodialysis

1 reference

12 December 2020

Carnitine improves lipid anomalies in haemodialysis patients

1 reference

12 December 2020

Primary systemic carnitine deficiency. II. Renal handling of carnitine

1 reference

12 December 2020

A rapid, simple, and sensitive procedure for the determination of free fatty acids in plasma using glass capillary column gas-liquid chromatography

1 reference

12 December 2020

Plasma cysteamine concentrations in children treated for cystinosis

1 reference

12 December 2020

Dextran sulfate-Mg2+ precipitation procedure for quantitation of high-density-lipoprotein cholesterol

1 reference

12 December 2020

Effect of diet on plasma carnitine levels and urinary carnitine excretion in humans

1 reference

12 December 2020

Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency

1 reference

12 December 2020

Carnitine biosynthesis and function. Introductory remarks

1 reference

12 December 2020

Survival time in cystinosis. A collaborative study

1 reference

12 December 2020

A comparison of plasma and muscle carnitine levels in patients on peritoneal or hemodialysis for chronic renal failure

1 reference

12 December 2020

Correlation between increased serum and tissue L-carnitine levels and improved muscle symptoms in hemodialyzed patients

1 reference

12 December 2020

Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy

1 reference

12 December 2020

Systemic carnitine deficiency: Clinical, biochemical, and morphological cure with L-carnitine

1 reference

12 December 2020

High dose of L-carnitine increases platelet aggregation and plasma triglyceride levels in uremic patients on hemodialysis

1 reference

12 December 2020

Neomycin and plasma lipoproteins in type II hyperlipoproteinemia

1 reference

12 December 2020

Carnitine metabolism and inborn errors

1 reference

12 December 2020

L-Carnitine dissimilation in the gastrointestinal tract of the rat

1 reference

12 December 2020

In vivo studies of intestinal carnitine absorption in rats

1 reference

12 December 2020

Carnitine kinetics during dialysis. Evidence of unilateral transport from tissues to plasma

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI113353

1 reference

10 August 2017

1 reference

10 August 2017

1 reference