(Q24564364)

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

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9739053%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9739053%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Trifunctional protein deficiency

0 references

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

protein deficiency

1 reference

based on heuristic

inferred from title

Carlo Dionisi-Vici

3

1 reference

Europe PubMed Central

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4 December 2019

author name string

J A Ibdah

1

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4 December 2019

I Tein

2

1 reference

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4 December 2019

M J Bennett

4

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4 December 2019

L IJlst

5

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4 December 2019

B Gibson

6

1 reference

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4 December 2019

R J Wanders

7

1 reference

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4 December 2019

A W Strauss

8

1 reference

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4 December 2019

language of work or name

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publication date

1 September 1998

1 reference

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4 December 2019

Journal of Clinical Investigation

1 reference

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4 December 2019

102

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4 December 2019

1193-1199

1 reference

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4 December 2019

6

1 reference

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4 December 2019

Mammalian orthologues of a yeast regulator of nonsense transcript stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

Combined enzyme defect of mitochondrial fatty acid oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

Bax directly induces release of cytochrome c from isolated mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

24 March 2017

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

27 September 2017

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

27 September 2017

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

27 September 2017

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

30 May 2018

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

30 May 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509102

28 November 2018

Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

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/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

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/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9739053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI2091

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9739053%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9739053%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9739053%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

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