Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

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2017 nî lūn-bûn

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2017年論文

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2017年論文

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Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

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Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

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Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

@en

Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

@nl

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Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

@en

Biochemical phenotyping unrave ...... eficiency with ketogenic diet.

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P1476

Biochemical phenotyping unrave ...... deficiency with ketogenic diet

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P2093

Adam D Kennedy

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Debra-Lynn Day-Salvatore

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Maria Stella Vari

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Marianna Alagia

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Nicola Brunetti-Pierri

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Pasquale Striano

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Pierangelo Veggiotti

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Simona Lunghi

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Taraka Donti

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Valentina De Giorgis

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P2860

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice

Organization of GC/MS and LC/MS metabolomics data into chemical libraries

Identification of a mammalian glycerol-3-phosphate phosphatase: Role in metabolism and signaling in pancreatic β-cells and hepatocytes

Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.

Integrated, nontargeted ultrahigh performance liquid chromatography/electrospray ionization tandem mass spectrometry platform for the identification and relative quantification of the small-molecule complement of biological systems.

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet.

A role for cytosolic isocitrate dehydrogenase as a negative regulator of glucose signaling for insulin secretion in pancreatic ß-cells.

The nervous system and metabolic dysregulation: emerging evidence converges on ketogenic diet therapy.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

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e0184022

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scholarly article

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10.1371/JOURNAL.PONE.0184022

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English

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Sarah H. Elsea

Michele Pinelli

Gerarda Cappuccio

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2017-09-29T00:00:00Z

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P698

28961260

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5621665

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