Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
about
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practiceThe clinical and genetic heterogeneity of paroxysmal dyskinesias.Crystal structure of the human glucose transporter GLUT1Obtaining genetic testing in pediatric epilepsyGlucose transporter 1 deficiency in the idiopathic generalized epilepsiesTreatment of epileptic encephalopathiesMolecular Dynamics Simulations of the Human Glucose Transporter GLUT1GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.Paroxysmal eye-head movements in Glut1 deficiency syndromeA diagnostic approach for cerebral palsy in the genomic era.Avian and Mammalian Facilitative Glucose Transporters.Suppression of conformation-compromised mutants of Salmonella enterica serovar Typhimurium MelB.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.In vitro nanobody discovery for integral membrane protein targetsFavourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingTriheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiencyImproving diagnosis for congenital cataract by introducing NGS genetic testing.Exogenous Ketone Supplements Reduce Anxiety-Related Behavior in Sprague-Dawley and Wistar Albino Glaxo/Rijswijk Rats.No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.Paroxysmal Nonepileptic Events in Glut1 Deficiency.Sugar for the brain: the role of glucose in physiological and pathological brain functionGlucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.Dietary therapies for epilepsy: future research.The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.Differential diagnosis of chorea.Cerebrovascular disorders: molecular insights and therapeutic opportunities.Epilepsy in children--when should we think neurometabolic disease?Inborn errors of metabolism causing epilepsy.Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).The genetics of dystonia: new twists in an old tale.Episodic movement disorders: from phenotype to genotype and back.GLUT1 deficiency syndrome into adulthood: a follow-up study.Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.Clinical Variability of GLUT1DS.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en-gb
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@nl
type
label
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en-gb
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@nl
prefLabel
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@en-gb
Glucose transporter-1 deficien ...... ctrum of a treatable disorder.
@nl
P2093
P2860
P50
P356
P1433
P1476
Glucose transporter-1 deficien ...... ectrum of a treatable disorder
@en
P2093
Adela Della Marina
Athanasios Evangeliou
Axel Panzer
Baziel G van Engelen
Bernhard Weschke
Brigitte Chabrol
Bwee T Poll-The
Christian Rauscher
Christophe M R Rouselle
David Webb
P2860
P304
P356
10.1093/BRAIN/AWP336
P407
P577
2010-02-02T00:00:00Z