A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy.

Autor: Málaga I; Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Avila A; Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Primeaux S; Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Park JY; Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Eugene McDermott Center for Human Growth & Development/Center for Human Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Pascual JM; Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Eugene McDermott Center for Human Growth & Development/Center for Human Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Physiology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Publikováno v: Epilepsia [Epilepsia] 2023 Sep; Vol. 64 (9), pp. e184-e189. Date of Electronic Publication: 2023 Jul 10.

Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D).

Autor: Avila A; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Málaga I; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Sirsi D; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Kayani S; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Primeaux S; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Kathote GA; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Jakkamsetti V; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Kallem RR; Department of Pharmacy Practice and Clinical Pharmacology, Experimental Therapeutics Center, Texas Tech University Health Sciences Center, Dallas, TX, 75235, USA., Putnam WC; Department of Pharmacy Practice and Clinical Pharmacology, Experimental Therapeutics Center, Texas Tech University Health Sciences Center, Dallas, TX, 75235, USA.; Department of Pharmaceutical Science, Texas Tech University Health Sciences Center, Dallas, TX, 75235, USA., Park JY; Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA., Shinnar S; Departments of Neurology and Pediatrics, Albert Einstein College of Medicine, Bronx, NY, 10467, USA., Pascual JM; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Mail Code 8813, Dallas, TX, 75390, USA. Juan.Pascual@utsouthwestern.edu.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Juan.Pascual@utsouthwestern.edu.; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Juan.Pascual@utsouthwestern.edu.; Department of Physiology, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Juan.Pascual@utsouthwestern.edu.; Eugene McDermott Center for Human Growth & Development/Center for Human Genetics, The University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Juan.Pascual@utsouthwestern.edu.

Publikováno v: Scientific reports [Sci Rep] 2023 Jun 02; Vol. 13 (1), pp. 8951. Date of Electronic Publication: 2023 Jun 02.

Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D).

Autor: Wang RC; Department of Dermatology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Lee EE; Department of Dermatology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., De Simone N; Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Kathote G; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Primeaux S; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Avila A; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Yu DM; Department of Dermatology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Johnson M; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Good LB; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Jakkamsetti V; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Sarode R; Departments of Pathology and Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Holland AA; Department of Psychiatry, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Pascual JM; Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Physiology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Eugene McDermott Center for Human Growth & Development/Center for Human Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Publikováno v: Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism [J Cereb Blood Flow Metab] 2023 Mar; Vol. 43 (3), pp. 357-368. Date of Electronic Publication: 2022 Dec 15.

559 - Floppy eyelid syndrome and obesity study

Autor: Acosta, B, Acosta, K, Primeaux, S

Publikováno v: In The American Journal of the Medical Sciences February 2023 365 Supplement 1:S304-S305

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