Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. (Q53145265)

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scientific article published on 31 August 2012

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English	Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.	scientific article published on 31 August 2012

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

mitochondrial DNA

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mitochondrial DNA depletion syndrome

1 reference

based on heuristic

inferred from title

2

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

object named as

Antonia Ribes

14

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author name string

Aleix Navarro-Sastre

1

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Judit Garcia-Villoria

3

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Mónica Ruiz Pons

4

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Andrés Nascimento

5

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Jaume Colomer

6

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Jaume Campistol

7

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Maria Eugenia Yoldi

8

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Ester López-Gallardo

9

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Julio Montoya

10

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Maria Unceta

11

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Maria Jesús Martinez

12

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Paz Briones

13

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

publication date

31 August 2012

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

107

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

3

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

409-415

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Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

1 reference

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7 January 2021

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

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Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

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Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

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The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

1 reference

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Polymerase gamma disease through the ages

1 reference

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

1 reference

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7 January 2021

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

1 reference

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7 January 2021

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

1 reference

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7 January 2021

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

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A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

1 reference

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7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

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7 January 2021

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

1 reference

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7 January 2021

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

1 reference

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7 January 2021

New mutations in TK2 gene associated with mitochondrial DNA depletion.

1 reference

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7 January 2021

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

1 reference

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7 January 2021

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

1 reference

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7 January 2021

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

1 reference

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7 January 2021

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Quantification of mitochondrial DNA copy number: pre-analytical factors

1 reference

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7 January 2021

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue

1 reference

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7 January 2021

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

1 reference

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7 January 2021

Clinical manifestations of mitochondrial DNA depletion

1 reference

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Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

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Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

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Quantitative evaluation of the mitochondrial DNA depletion syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

1 reference

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7 January 2021

Mitochondrial DNA depletion and dGK gene mutations

1 reference

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7 January 2021

Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase

1 reference

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7 January 2021

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

1 reference

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7 January 2021

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

1 reference

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Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

1 reference

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Mitochondrial hepatopathies in the newborn period

1 reference

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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

1 reference

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7 January 2021

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Disorders caused by deficiency of succinate-CoA ligase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Causes of and diagnostic approach to methylmalonic acidurias.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.08.018

7 January 2021

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

1 reference

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2012.08.018

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 May 2018

http://europepmc.org/abstract/MED/22980518

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