Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations (Q28204966)

mitochondrial trifunctional protein deficiency

3 January 2024

main subject

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protein deficiency

1 reference

Trifunctional protein deficiency

inferred from title

1 reference

inferred from title

phenotypic heterogeneity

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1 reference

3 January 2024

author name string

Ute Spiekerkoetter

1

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Bin Sun

2

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Zaza Khuchua

3

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Michael J. Bennett

4

1 reference

Europe PubMed Central

PubMed ID

12754706

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754706

3 January 2024

Arnold W. Strauss

5

1 reference

Europe PubMed Central

PubMed ID

12754706

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754706

full work available at URL

3 January 2024

language of work or name

English

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publication date

June 2003

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https://doi.org/10.1002/humu.10211

online access status

open access

1 reference

Europe PubMed Central

PubMed ID

12754706

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12754706

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.10211

3 January 2024

1 reference

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.10211

3 January 2024

1 reference

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

3 January 2024

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21

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page(s)

598-607

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issue

6

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

The 1.8 A crystal structure of the dimeric peroxisomal 3-ketoacyl-CoA thiolase of Saccharomyces cerevisiae: implications for substrate binding and reaction mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Mammalian orthologues of a yeast regulator of nonsense transcript stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Fatty acid oxidation disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Interleukin 1 signaling occurs exclusively via the type I receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10211

7 January 2021