Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

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2017 nî lūn-bûn

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2017年の論文

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Selection and Characterization ...... th an OXPHOS Complex I Defect.

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Selection and Characterization ...... th an OXPHOS Complex I Defect.

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Selection and Characterization ...... th an OXPHOS Complex I Defect.

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Selection and Characterization ...... th an OXPHOS Complex I Defect.

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Selection and Characterization ...... th an OXPHOS Complex I Defect.

@en

Selection and Characterization ...... th an OXPHOS Complex I Defect.

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P1476

Selection and Characterization ...... th an OXPHOS Complex I Defect.

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Debby M E I Hellebrekers

http://www.w3.org/2001/XMLSchema#string

Elvira N M M-D Hartog

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Florence H van Tienen

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Hans R Scholte

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Hubert J M Smeets

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Irenaeus F M de Coo

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Kees Schoonderwoerd

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Mike Gerards

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Radek Szklarczyk

http://www.w3.org/2001/XMLSchema#string

Rick Kamps

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P2860

Ketogenic diet in neuromuscular and neurodegenerative diseases

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The neuroprotective properties of calorie restriction, the ketogenic diet, and ketone bodies

Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase

Metabolic aspects of low carbohydrate diets and exercise

NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound

Mechanisms underlying the anti-epileptic efficacy of the ketogenic diet.

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336

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scholarly article

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10.3389/FNMOL.2017.00336

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2017-10-18T00:00:00Z

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29093663

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5651253

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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

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P2860

P2860

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

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P1433

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