Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency (Q28327381)

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scientific article published on January 1, 1991

Language	Label	Description	Also known as
English	Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency	scientific article published on January 1, 1991

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scholarly article

0 references

Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency (English)

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Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency (English)

1 reference

10.1007/BF01804391

https://api.crossref.org/works/10.1007/BF01804391

12 December 2022

2-methylacetoacetyl-CoA

1 reference

ChEBI release 2020-05-28

1 reference

10.1007/BF01804391

https://api.crossref.org/works/10.1007/BF01804391

12 December 2022

author name string

S. Aramaki

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

D. Lehotay

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

L. Sweetman

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

W. L. Nyhan

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

S. C. Winter

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

B. Middleton

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1861461

12 December 2022

language of work or name

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publication date

1991

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full work available at URL

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01804391

1 reference

10.1007/BF01804391

https://api.crossref.org/works/10.1007/BF01804391

12 December 2022

Journal of Inherited Metabolic Disease

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14

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1

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63-74

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Ketothiolase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative gaschromatographic determination of short chain aldehydes and ketones in the urine of infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1861461

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/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome"

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1861461

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/BF01804391

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