From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
about
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions.Atypical Manifestations in Glut1 Deficiency Syndrome.Evaluation of non-coding variation in GLUT1 deficiency.Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.
P2860
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P2860
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
@en
type
label
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
@en
prefLabel
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
@en
P2093
P50
P1476
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
@en
P2093
Agathe Roubertie
Alexis Chenouard
Alice Goldenberg
Alice Kuster
Anne LeBihannic
Anne Roubergue
Bertrand Degos
Bénédicte Heron
Catherine Vanhulle
Christiane Le Bizec
P304
P356
10.1016/J.EJMG.2015.06.007
P577
2015-07-17T00:00:00Z