Pages that link to "Q40716651"

The following pages link to From splitting GLUT1 deficiency syndromes to overlapping phenotypes (Q40716651):

Displaying 17 items.

• Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1. (Q37525648) (← links)
• Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions (Q38610367) (← links)
• Atypical Manifestations in Glut1 Deficiency Syndrome (Q38850454) (← links)
• Evaluation of non-coding variation in GLUT1 deficiency (Q47870181) (← links)
• Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome (Q48229595) (← links)
• Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome (Q48690341) (← links)
• Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome (Q51168087) (← links)
• Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency. (Q54345773) (← links)
• Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome. (Q55160107) (← links)
• Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice (Q57135477) (← links)
• Overall cognitive profiles in patients with GLUT 1 Deficiency Syndrome (Q64269006) (← links)
• Movement Disorders in Treatable Inborn Errors of Metabolism (Q64787891) (← links)
• The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan (Q91226853) (← links)
• Variety of symptoms of GLUT1 deficiency syndrome in three-generation family (Q91563861) (← links)
• Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort (Q91856722) (← links)
• Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population (Q93039415) (← links)
• Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (Q99351936) (← links)