Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
about
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.Creatine-electrolyte supplementation improves repeated sprint cycling performance: A double blind randomized control study.
P2860
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P2860
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Screening for primary creatine ...... xplained neurological symptoms
@ast
Screening for primary creatine ...... xplained neurological symptoms
@en
type
label
Screening for primary creatine ...... xplained neurological symptoms
@ast
Screening for primary creatine ...... xplained neurological symptoms
@en
prefLabel
Screening for primary creatine ...... xplained neurological symptoms
@ast
Screening for primary creatine ...... xplained neurological symptoms
@en
P2093
P2860
P50
P356
P1476
Screening for primary creatine ...... xplained neurological symptoms
@en
P2093
Alexandra Afenjar
Alice Goldenberg
Allel Chabli
Brigitte Chabrol
Christine Vianey-Saban
David Cheillan
Delphine Héron
Dries Dobbelaere
Fabienne Prieur
François Cartault
P2860
P2888
P356
10.1186/1750-1172-7-96
P50
P577
2012-12-13T00:00:00Z
P5875
P6179
1034924474