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 (Q44602079)

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scientific article published in January 2003

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English	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	scientific article published in January 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

O-tiglylcarnitine

1 reference

ChEBI release 2020-05-28

author name string

T Fukao

1

1 reference

Europe PubMed Central

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4 December 2017

G X Zhang

2

1 reference

Europe PubMed Central

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4 December 2017

N Sakura

3

1 reference

Europe PubMed Central

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4 December 2017

T Kubo

4

1 reference

Europe PubMed Central

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4 December 2017

H Yamaga

5

1 reference

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4 December 2017

A Hazama

6

1 reference

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4 December 2017

Y Kohno

7

1 reference

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4 December 2017

N Matsuo

8

1 reference

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4 December 2017

M Kondo

9

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4 December 2017

S Yamaguchi

10

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4 December 2017

Y Shigematsu

11

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4 December 2017

N Kondo

12

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4 December 2017

publication date

1 January 2003

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4 December 2017

Journal of Inherited Metabolic Disease

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4 December 2017

26

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4 December 2017

5

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Europe PubMed Central

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4 December 2017

423-431

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Europe PubMed Central

PubMed publication ID

4 December 2017

Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A "new" disorder of isoleucine catabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system

1 reference

https://pubmed.ncbi.nlm.nih.gov/14518824

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

1 reference

https://api.crossref.org/works/10.1023%2FA%3A1025117226051

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1023/A:1025117226051

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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