Retrospective natural history of thymidine kinase 2 deficiency.

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Towards a therapy for mitochondrial disease: an update

P2860

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P2860

Retrospective natural history of thymidine kinase 2 deficiency.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Retrospective natural history of thymidine kinase 2 deficiency.

@en

Retrospective natural history of thymidine kinase 2 deficiency.

@nl

type

Item

label

Retrospective natural history of thymidine kinase 2 deficiency.

@en

Retrospective natural history of thymidine kinase 2 deficiency.

@nl

prefLabel

Retrospective natural history of thymidine kinase 2 deficiency.

@en

Retrospective natural history of thymidine kinase 2 deficiency.

@nl

P1476

Retrospective natural history of thymidine kinase 2 deficiency.

@en

P2093

Adnan Y Manzur

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Andrés Nascimento

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Anu Suomalainen

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Anupam Chakrapani

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Bruce Levin

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Carl Fratter

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Carlos Ortez

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Caterina Garone

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Christoph Karch

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Cristina Domínguez-González

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P2860

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

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

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Pract

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

A natural history study of late onset spinal muscular atrophy types 3b and 4.

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515-521

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scholarly article

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10.1136/JMEDGENET-2017-105012

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P407

English

P433

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P478

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P50

P577

2018-03-30T00:00:00Z

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29602790

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P932

6073909

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Retrospective natural history of thymidine kinase 2 deficiency.

about

P2860

P2860

Retrospective natural history of thymidine kinase 2 deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932