(Q71755056)

English

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

scientific article published on 01 January 1995

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Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564258%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564258%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

L Ijlst

1

1 reference

Europe PubMed Central

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21 October 2019

S Uskikubo

2

1 reference

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21 October 2019

T Kamijo

3

1 reference

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21 October 2019

T Hashimoto

4

1 reference

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21 October 2019

J P Ruiter

5

1 reference

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21 October 2019

J B de Klerk

6

1 reference

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21 October 2019

R J Wanders

7

1 reference

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21 October 2019

publication date

1 January 1995

1 reference

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21 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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21 October 2019

18

1 reference

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21 October 2019

241-244

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21 October 2019

2

1 reference

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21 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00711778

0 references

Combined enzyme defect of mitochondrial fatty acid oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7564258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711778

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564258%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564258%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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