(Q72185531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7728148%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

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24 October 2019

author name string

Wakazono A

1

1 reference

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24 October 2019

Fukao T

2

1 reference

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24 October 2019

Yamaguchi S

3

1 reference

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24 October 2019

Hori T

4

1 reference

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24 October 2019

Orii T

5

1 reference

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24 October 2019

Lambert M

6

1 reference

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24 October 2019

Mitchell GA

7

1 reference

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24 October 2019

Lee GW

8

1 reference

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24 October 2019

Hashimoto T

9

1 reference

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24 October 2019

publication date

1 January 1995

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24 October 2019

1 reference

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24 October 2019

volume

5

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24 October 2019

issue

1

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24 October 2019

page(s)

34-42

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Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

24 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

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/10.1002%2FHUMU.1380050105

7 January 2021

Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

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/10.1002%2FHUMU.1380050105

7 January 2021

Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

The oxoacyl-coenzyme A thiolases of animal tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

beta-Ketothiolase deficiency with favourable evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050105

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7728148%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference