Current issues regarding treatment of mitochondrial fatty acid oxidation disorders (Q37787094)

23 August 2017

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders (English)

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23 August 2017

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Ute Spiekerkoetter

1

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23 August 2017

Jean Bastin

2

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23 August 2017

Melanie Gillingham

3

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23 August 2017

Andrew Morris

4

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23 August 2017

Frits Wijburg

5

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23 August 2017

Bridget Wilcken

6

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23 August 2017

10 September 2010

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Journal of Inherited Metabolic Disease

23 August 2017

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23 August 2017

33

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23 August 2017

5

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23 August 2017

555-561

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9188-1

23 August 2017

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cites work

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9188-1

Mouse models for disorders of mitochondrial fatty acid beta-oxidation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9188-1

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9188-1

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

21 January 2018

1 reference

12 December 2020

The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement

1 reference

12 December 2020

Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency

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12 December 2020

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

1 reference

12 December 2020

Docosahexaenoic acid and arachidonic acid enhance growth with no adverse effects in preterm infants fed formula

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12 December 2020

Fat metabolism during exercise: a review--part II: regulation of metabolism and the effects of training

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12 December 2020

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

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12 December 2020

Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: the bezafibrate lessons

1 reference

12 December 2020

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency

1 reference

12 December 2020

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

1 reference

12 December 2020

Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate

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12 December 2020

Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice

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12 December 2020

Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia

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12 December 2020

Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine

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12 December 2020

Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

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12 December 2020

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].

1 reference

12 December 2020

Essentiality of dietary omega 3 fatty acids for premature infants: plasma and red blood cell fatty acid composition

1 reference

12 December 2020

Treatment of carnitine deficiency

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12 December 2020

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

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12 December 2020

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

1 reference

12 December 2020

Dietary essential fatty acids, long-chain polyunsaturated fatty acids, and visual resolution acuity in healthy fullterm infants: a systematic review.

1 reference

12 December 2020

L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study

1 reference

12 December 2020

Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection

1 reference

12 December 2020

L-carnitine in inborn errors of metabolism: what is the evidence?

1 reference

12 December 2020

Carnitine supplementation for inborn errors of metabolism

1 reference

12 December 2020

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

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12 December 2020

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

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12 December 2020

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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12 December 2020

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

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12 December 2020

Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.

1 reference

12 December 2020

Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells

1 reference

12 December 2020

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

1 reference

12 December 2020

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

1 reference

12 December 2020

10.1007/S10545-010-9188-1

Identifiers

DOI

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23 August 2017

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