(Q44123147)

30 November 2017

title

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations (English)

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30 November 2017

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4

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30 November 2017

Keow Giak Sim

1

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30 November 2017

Kevin Carpenter

series ordinal

2

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30 November 2017

Judith Hammond

series ordinal

3

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30 November 2017

Bridget Wilcken

series ordinal

5

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30 November 2017

publication date

1 August 2002

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Molecular Genetics and Metabolism

30 November 2017

published in

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30 November 2017

volume

76

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30 November 2017

issue

4

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30 November 2017

page(s)

327-334

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Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

30 November 2017

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Common MCAD mutation in a healthy parent of two affected siblings

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Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

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7 January 2021

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders

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Carnitine-acylcarnitine translocase deficiency--a mild phenotype

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

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Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders

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7 January 2021

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

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Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

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Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

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Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

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"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

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7 January 2021

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

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Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype

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Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

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Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy

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7 January 2021

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case

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7 January 2021

Medium chain acyl-CoA dehydrogenase deficiency

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

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7 January 2021

Elucidation of the mechanism by which (+)-acylcarnitines inhibit mitochondrial fatty acid transport

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Identifiers

DOI

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30 November 2017

1 reference