(Q39138447)

9 September 2017

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency (English)

1 reference

9 September 2017

7

1 reference

9 September 2017

Angela Arias

2

0 references

Antonia Ribes

object named as

Antonia Ribes

12

0 references

Judit García-Villoria

4

object named as

Judit García-Villoria

1 reference

9 September 2017

11

Paz Briones

1 reference

9 September 2017

10

Rafael Artuch

1 reference

9 September 2017

3

Raquel Montero

1 reference

9 September 2017

Nuria Buján

1

1 reference

9 September 2017

Willy Lissens

5

1 reference

9 September 2017

Sara Seneca

6

1 reference

9 September 2017

Plácido Navas

8

1 reference

9 September 2017

Linda De Meirleir

9

1 reference

9 September 2017

18 June 2013

1 reference

Journal of Inherited Metabolic Disease

9 September 2017

1 reference

9 September 2017

37

1 reference

9 September 2017

1

1 reference

9 September 2017

53-62

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-013-9620-4

9 September 2017

0 references

cites work

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Isolation of a quinone from beef heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Regulation of ubiquinone metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

A constituent of the unsaponifiable portion of animal tissue lipids (λmax. 272mμ.)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Coenzyme Q10 deficiency and isolated myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Human coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of Niemann-Pick type C disease upon treatment with peroxisomal proliferators

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Investigation of coenzyme Q biosynthesis in human fibroblast and HepG2 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Metabolism and function of coenzyme Q.

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

21 January 2018

12 December 2020

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9620-4

Analysis of coenzyme Q10 in lymphocytes by HPLC–MS/MS

21 January 2018

1 reference

12 December 2020

Molecular analysis of 30 Niemann-Pick type C patients from Spain

1 reference

12 December 2020

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency

1 reference

12 December 2020

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

1 reference

12 December 2020

Muscle coenzyme Q10 in mitochondrial encephalomyopathies

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

10.1007/S10545-013-9620-4

Identifiers

DOI

1 reference

9 September 2017

1 reference