Clinical and biochemical characterization of four patients with mutations in ECHS1. (Q35760569)

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17 February 2020

title

Clinical and biochemical characterization of four patients with mutations in ECHS1 (English)

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Ronald J A Wanders

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1

Sacha Ferdinandusse

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Hans R Waterham

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17 February 2020

author name string

Marisa W Friederich

2

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Alberto Burlina

3

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Jos P N Ruiter

4

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Megan K Dishop

6

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Renata C Gallagher

7

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Jirair K Bedoyan

8

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Frédéric M Vaz

9

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Katherine Gowan

11

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Kathryn Chatfield

12

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Kaitlyn Bloom

13

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Michael J Bennett

14

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Orly Elpeleg

15

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Johan L K Van Hove

16

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17 February 2020

publication date

18 June 2015

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Orphanet Journal of Rare Diseases

17 February 2020

published in

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17 February 2020

volume

10

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17 February 2020

page(s)

79

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Creative Commons Attribution 4.0 International

17 February 2020

copyright license

start time

18 June 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Short-chain acyl-coenzyme A dehydrogenase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Inborn errors of isoleucine degradation: a review

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Enzymes of fatty acid metabolism. II. Properties of crystalline crotonase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Purification and partial characterization of 3-hydroxyisobutyryl-coenzyme A hydrolase of rat liver

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Induction of the branched-chain 2-oxo acid dehydrogenase complex in 3T3-L1 adipocytes during differentiation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4474341

Glycine metabolism by rat liver mitochondria. 3. The glycine cleavage and the exchange of carboxyl carbon of glycine with bicarbonate

25 September 2018

1 reference

12 December 2020

Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation

1 reference

12 December 2020

Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi

1 reference

12 December 2020

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

1 reference

12 December 2020

Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity

1 reference

12 December 2020

10.1186/S13023-015-0290-1

Identifiers

DOI

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Dimensions Publication ID

17 February 2020

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17 February 2020

PubMed publication ID

26081110

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