Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

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Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-my

2014年学术文章

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2014年學術文章

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2014年學術文章

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2014年學術文章

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name

Clinical variability in neuroh ...... depletion and Gaucher disease

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Clinical variability in neuroh ...... depletion and Gaucher disease

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type

Item

label

Clinical variability in neuroh ...... depletion and Gaucher disease

@en

Clinical variability in neuroh ...... depletion and Gaucher disease

@nl

prefLabel

Clinical variability in neuroh ...... depletion and Gaucher disease

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Clinical variability in neuroh ...... depletion and Gaucher disease

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P1476

Clinical variability in neuroh ...... depletion and Gaucher disease

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P2093

Boel De Paepe

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Catherine Wanty

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François-Guillaume Debray

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Joél Smet

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Laurent Weekers

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Nicole Revencu

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Rudy Van Coster

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Sara Seneca

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P2860

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease

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

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

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

Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities.

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.

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223-231

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scholarly article

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10.1016/J.YMGMR.2014.04.006

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P478

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P577

2014-05-10T00:00:00Z

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262878496

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P698

27896091

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P921

mitochondrial DNA

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5121303

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