Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

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A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen

P2860

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P2860

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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Mitochondrial energetic defect ...... acute intermittent porphyria.

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P1476

Mitochondrial energetic defect ...... acute intermittent porphyria.

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P2093

Caroline Schmitt

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Chadi Homedan

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Gilles Simard

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Jean-Charles Deybach

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Jihane Laafi

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Yves Malthièry

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P2860

Diagnosis and management of porphyria

RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

The little imitator--porphyria: a neuropsychiatric disorder

Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.

Recommendations for the diagnosis and treatment of the acute porphyrias.

Porphyric neuropathy.

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

The mitochondrial proteome and human disease.

P304

5015-5023

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scholarly article

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10.1093/HMG/DDV222

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P478

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Laurent Gouya

Valérie Desquiret-Dumas

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2015-06-12T00:00:00Z

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P698

26071363

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Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

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P2860

P2860

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

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