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Journal of Neuromuscular Diseases
|
January 31, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies
Andres Berardo, Cristina Domínguez-González, Kristin Engelstad, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2010
The spectrum of movement disorders in Glut-1 deficiency
Roser Pons, Abbie Collins, Michael Rotstein, et al.
The Journal of Pediatrics
|
January 27, 2016
Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment
Cigdem Inan Akman, Julia Yu, Aliza Alter, et al.
Journal of Child Neurology
|
August 12, 2016
Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome
Michelle Blumenschine, Jacqueline Montes, Ashwini K Rao, et al.
Current Neurology and Neuroscience Reports
|
February 28, 2013
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)
Toni S Pearson, Cigdem Akman, Veronica J Hinton, et al.
Epilepsia
|
May 20, 2003
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
Linda D Leary, Dong Wang, Douglas R Nordli, et al.
Annals of Neurology
|
September 27, 2002
Imaging the metabolic footprint of Glut1 deficiency on the brain
Juan M Pascual, Ronald L Van Heertum, Dong Wang, et al.
Journal of the Neurological Sciences
|
March 12, 2005
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox"
Ali Naini, Petra Kaufmann, Sara Shanske, et al.
Annals of Clinical and Translational Neurology
|
May 1, 2021
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency
Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, et al.
JIMD Reports
|
November 30, 2015
CoQ<sub>10</sub> Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
Emanuele Barca, Maoxue Tang, Giulio Kleiner, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 47) with videos related to
Sort By:
Page
of 5
Journal of Neuromuscular Diseases
|
January 31, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies
Andres Berardo, Cristina Domínguez-González, Kristin Engelstad, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2010
The spectrum of movement disorders in Glut-1 deficiency
Roser Pons, Abbie Collins, Michael Rotstein, et al.
The Journal of Pediatrics
|
January 27, 2016
Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment
Cigdem Inan Akman, Julia Yu, Aliza Alter, et al.
Journal of Child Neurology
|
August 12, 2016
Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome
Michelle Blumenschine, Jacqueline Montes, Ashwini K Rao, et al.
Current Neurology and Neuroscience Reports
|
February 28, 2013
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS)
Toni S Pearson, Cigdem Akman, Veronica J Hinton, et al.
Epilepsia
|
May 20, 2003
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
Linda D Leary, Dong Wang, Douglas R Nordli, et al.
Annals of Neurology
|
September 27, 2002
Imaging the metabolic footprint of Glut1 deficiency on the brain
Juan M Pascual, Ronald L Van Heertum, Dong Wang, et al.
Journal of the Neurological Sciences
|
March 12, 2005
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox"
Ali Naini, Petra Kaufmann, Sara Shanske, et al.
Annals of Clinical and Translational Neurology
|
May 1, 2021
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency
Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, et al.
JIMD Reports
|
November 30, 2015
CoQ<sub>10</sub> Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome
Emanuele Barca, Maoxue Tang, Giulio Kleiner, et al.
Page
of 5