(Q28327381)

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

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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)

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)

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

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

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

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

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

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

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

Identifiers

10.1007/BF01804391

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Springer Nature article ID

10.1007/bf01804391

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