(Q47927249)

6 February 2018

title

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

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6 February 2018

main subject

fatty acid

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author

Matthias R Baumgartner

5

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6 February 2018

author name string

U Spiekerkoetter

1

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6 February 2018

M Lindner

2

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R Santer

3

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M Grotzke

4

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6 February 2018

H Boehles

6

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A Das

7

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C Haase

8

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6 February 2018

J B Hennermann

9

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D Karall

10

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H de Klerk

11

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I Knerr

12

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H G Koch

13

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B Plecko

14

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W Röschinger

15

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6 February 2018

K O Schwab

16

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D Scheible

17

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6 February 2018

F A Wijburg

18

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6 February 2018

J Zschocke

19

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E Mayatepek

20

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U Wendel

21

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6 February 2018

publication date

29 April 2009

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6 February 2018

Journal of Inherited Metabolic Disease

published in

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6 February 2018

volume

32

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6 February 2018

issue

4

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6 February 2018

page(s)

488-497

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6 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-009-1125-9

exact match

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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%2FS10545-009-1125-9

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

12 December 2020

Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

1 reference

12 December 2020

Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

1 reference

12 December 2020

Neonatal screening for defects of the mitochondrial trifunctional protein

1 reference

12 December 2020

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

1 reference

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

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene

1 reference

12 December 2020

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

1 reference

12 December 2020

Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

1 reference

12 December 2020

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

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

1 reference

12 December 2020

Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.

1 reference

12 December 2020

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits

1 reference

12 December 2020

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

1 reference

12 December 2020

Effects of a fat load and exercise on asymptomatic VLCAD deficiency

1 reference

12 December 2020

10.1007/S10545-009-1125-9

Identifiers

DOI

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6 February 2018

PubMed ID

19399638

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6 February 2018