(Q40558662)

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Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

scientific article published on 5 May 2004

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Europe PubMed Central

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21 September 2017

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. (English)

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Europe PubMed Central

PubMed publication ID

21 September 2017

author name string

Gai Xiu Zhang

1

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Europe PubMed Central

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21 September 2017

Toshiyuki Fukao

2

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21 September 2017

Marie-Odile Rolland

3

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Europe PubMed Central

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21 September 2017

Marie-Therese Zabot

4

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21 September 2017

Gilles Renom

5

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21 September 2017

Elias Touma

6

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21 September 2017

Masashi Kondo

7

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21 September 2017

Naoki Matsuo

8

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21 September 2017

Naomi Kondo

9

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21 September 2017

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publication date

5 May 2004

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21 September 2017

Pediatric Research

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21 September 2017

56

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21 September 2017

1

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21 September 2017

60-64

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21 September 2017

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Nephrotic syndrome in children: A randomized trial comparing two prednisone regimens in steroid-responsive patients who relapse early

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

3-Ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000129657.48122.52

21 January 2018

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10.1203/01.PDR.0000129657.48122.52

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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PubMed publication ID

1 reference

Europe PubMed Central

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21 September 2017

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