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Academic Journal

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.

  • Authors : Jakkamsetti V; Rare Brain Disorders Program, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Subjects: Brain/Brain/Brain/*metabolism ; Neurons/Neurons/Neurons/*physiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*metabolism

  • Source: Science translational medicine [Sci Transl Med] 2019 Feb 20; Vol. 11 (480).Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.

  • Authors : Ferriero R; Telethon Institute of Genetics and Medicine, Naples 80131, Italy.; Manco G

Subjects: Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/*drug therapy ; Phenylbutyrates/Phenylbutyrates/Phenylbutyrates/*therapeutic use ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*drug therapy

  • Source: Science translational medicine [Sci Transl Med] 2013 Mar 06; Vol. 5 (175), pp. 175ra31.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*; Acidosis/Acidosis/Acidosis/*congenital ; Carboxy-Lyases/Carboxy-Lyases/Carboxy-Lyases/*deficiency

  • Source: Science (New York, N.Y.) [Science] 1975 Mar 21; Vol. 187 (4181), pp. 1082-4.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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  • 1-3 of  3 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""