(Q48069270)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

title

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

Congenital lactic acidosis

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ivan S Ivanov

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Dahlia M Kancheva

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Rita Horvath

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Aleksandra Filipovska

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

29

Luba Kalaydjieva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

author name string

Dimitar N Azmanov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Mariya B Ivanova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Teodora Chamova

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ilyana H Pacheva

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Margarita V Panova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Sharon Song

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ralitsa V Yordanova

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Fani K Galabova

10

1 reference

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11 March 2020

Iglika G Sotkova

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Alexandar J Linev

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Stoyan Bitchev

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Anne-Marie J Shearwood

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Dana Gabrikova

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Veronika Karcagi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Velina Guergueltcheva

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ina E Geneva

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Veneta Bozhinova

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Vili K Stoyanova

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ivo Kremensky

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Albena Jordanova

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Aleksey Savov

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Matthew A Brown

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

Ivailo Tournev

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

publication date

21 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

11 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

volume

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

page(s)

76-83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25087164%20AND%20SRC:MED&resulttype=core&format=json

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

11 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

A newly discovered founder population: the Roma/Gypsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Challenges of diagnostic exome sequencing in an inbred founder population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

7 January 2021

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Estimation of the inbreeding coefficient through use of genomic data

7 January 2021

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PLINK: a tool set for whole-genome association and population-based linkage analyses

7 January 2021

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A method and server for predicting damaging missense mutations

7 January 2021

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Predicting deleterious amino acid substitutions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Leigh's disease due to a new mutation in the PDHX gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017

Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only

7 January 2021

1 reference

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Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.017