(Q30411122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

20 November 2019

title

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

20 November 2019

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jean-Marc Nuoffer

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Christopher B Jackson

2

1 reference

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12 June 2020

André Schaller

5

1 reference

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12 June 2020

Saikat Santra

9

1 reference

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12 June 2020

Masakazu Kohda

17

1 reference

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12 June 2020

Yoshihito Kishita

18

1 reference

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12 June 2020

Richard M. Durbin

23

1 reference

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12 June 2020

Charlotte L Alston

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Richard J Rodenburg

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Thomas Meitinger

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Holger Prokisch

44

1 reference

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12 June 2020

Akira Ohtake

15

1 reference

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12 June 2020

22

Anja Kolb-Kokocinski

1 reference

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12 June 2020

21

Yasin Memari

1 reference

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12 June 2020

Robert William Taylor

32

object named as

Robert W Taylor

1 reference

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12 June 2020

1

Tobias B Haack

1 reference

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12 June 2020

11

Thomas Wieland

1 reference

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12 June 2020

45

Thomas Klopstock

1 reference

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12 June 2020

36

Tim M Strom

1 reference

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12 June 2020

13

Peter Freisinger

1 reference

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12 June 2020

35

Wolfgang Sperl

1 reference

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12 June 2020

8

Gudrun Schottmann

1 reference

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12 June 2020

41

Markus Schuelke

1 reference

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12 June 2020

3

Kei Murayama

1 reference

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12 June 2020

6

Urania Kotzaeridou

1 reference

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12 June 2020

16

Yasushi Okazaki

1 reference

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12 June 2020

20

Sascha Sauer

1 reference

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12 June 2020

25

Kirsten Cremer

1 reference

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12 June 2020

28

Hartmut Engels

1 reference

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12 June 2020

43

Stefan Kölker

1 reference

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12 June 2020

author name string

Laura S Kremer

4

1 reference

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12 June 2020

Maaike C de Vries

7

1 reference

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12 June 2020

Boriana Büchner

10

1 reference

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12 June 2020

Elisabeth Graf

12

1 reference

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12 June 2020

Sandra Eggimann

14

1 reference

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12 June 2020

Yoshimi Tokuzawa

19

1 reference

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12 June 2020

Oswald Hasselmann

24

1 reference

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12 June 2020

Beate Albrecht

26

1 reference

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12 June 2020

Dagmar Wieczorek

27

1 reference

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12 June 2020

Dagmar Hahn

29

1 reference

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12 June 2020

Alexander M Zink

30

1 reference

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12 June 2020

Regina Trollmann

34

1 reference

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12 June 2020

Georg F Hoffmann

37

1 reference

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12 June 2020

Ramona Bolognini

40

1 reference

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12 June 2020

publication date

13 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

Annals of clinical and translational neurology

20 November 2019

published in

1 reference

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12 June 2020

volume

2

1 reference

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12 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

492-509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Disorders of fatty acid oxidation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435704

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

20 June 2018

1 reference

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

21 January 2018

1 reference

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

21 January 2018

1 reference

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

21 January 2018

1 reference

Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain

21 January 2018

1 reference

Differential inhibitory effect of long-chain acyl-CoA esters on succinate and glutamate transport into rat liver mitochondria and its possible implications for long-chain fatty acid oxidation defects.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ACN3.189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

26000322

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26000322%20AND%20SRC:MED&resulttype=core&format=json