(Q52187656)

English

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

scientific article published in May 1998

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

author name string

Tyni T

1

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

Lappi M

3

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

Summanen P

4

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

Nikoskelainen E

5

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

Pihko H

6

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

publication date

1 May 1998

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

105

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

5

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

810-824

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

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

1 reference

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7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

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

1 reference

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7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

1 reference

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7 January 2021

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3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1 reference

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7 January 2021

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

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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://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

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Combined enzyme defect of mitochondrial fatty acid oxidation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

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Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

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Identical mutations and phenotypic variation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Gyrate atrophy of the choroid and retina. Early findings

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2995019-9

7 January 2021

based on heuristic

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The peroxisome and the eye

1 reference

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7 January 2021

based on heuristic

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Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q

1 reference

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7 January 2021

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Identifiers

10.1016/S0161-6420(98)95019-9

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9593380

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