Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts

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Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Development of a Tandem Mass S ...... genase Activity in Fibroblasts

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label

Development of a Tandem Mass S ...... genase Activity in Fibroblasts

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prefLabel

Development of a Tandem Mass S ...... genase Activity in Fibroblasts

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P1476

Development of a Tandem Mass S ...... genase Activity in Fibroblasts

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P2093

Christine Vianey-Saban

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Cécile Acquaviva

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Séverine Ruet

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P2860

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

Peroxisomal and mitochondrial enzymes.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.

Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

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

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

P304

71-78

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P31

scholarly article

P356

10.1007/8904_2016_22

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P478

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P50

Damien Bouvier

P577

2016-12-10T00:00:00Z

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P698

27943070

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P932

5585096

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