Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.

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Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.

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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年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Extending the phenotypic spect ...... h synthetic liver dysfunction.

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Extending the phenotypic spect ...... h synthetic liver dysfunction.

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Extending the phenotypic spect ...... h synthetic liver dysfunction.

@en

Extending the phenotypic spect ...... h synthetic liver dysfunction.

@nl

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Extending the phenotypic spect ...... h synthetic liver dysfunction.

@en

Extending the phenotypic spect ...... h synthetic liver dysfunction.

@nl

P1476

Extending the phenotypic spect ...... th synthetic liver dysfunction

@en

P2093

David B Beck

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Eyby Leon

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Kristina Cusmano-Ozog

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P2860

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease.

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis.

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

P304

45-48

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scholarly article

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10.3233/TRD-180020

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P478

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N Andescavage

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2018-04-13T00:00:00Z

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29682452

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5904566

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