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内部出版物
在“
Elsevier电子期刊
”中,
命中:
29
条,耗时:小于0.01 秒
1.
Creatine transporter deficiency: Novel mutations and functional studies
作者:
O. Ardon
a
;
b
;
c
;
M. Procter
a
;
R. Mao
a
;
b
;
c
;
N. Longo
a
;
b
;
c
;
Nicola.Longo@hsc.utah.edu" class="auth_mail" title="E-mail the corresponding author
;
Y.E. Landau
d
;
A. Shilon-Hadass
d
;
L.V. Gabis
d
;
C. Hoffmann
d
;
M. Tzadok
d
;
G. Heimer
d
;
e
;
S. Sada
c
;
d
;
B. Ben-Zeev
d
;
Y. Anikster
d
关键词:
SLC6A8
;
Creatine transport
;
Human fibroblasts
;
HELA cells
;
Creatine transporter deficiency
;
Creatine deficiency
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
作者:
Graham B. Sinclair
a
;
c
;
d
;
e
;
gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author
;
Clara D.M. van Karnebeek
b
;
c
;
d
;
e
;
f
;
Manuel Ester
a
;
d
;
Frances Boyd
a
;
d
;
Tanya Nelson
a
;
d
;
e
;
Sylvia Stockler-Ipsiroglu
b
;
c
;
d
;
e
;
Hilary Vallance
a
;
c
;
d
;
e
关键词:
GAMT
;
guanidinoacetate methyltransferase
;
BC
;
British Columbia
;
GAA
;
guanidinoacetate
;
LC-MS/MS
;
liquid chromatography tandem mass spectrometry
;
MSUD
;
maple syrup urine disease
;
AGAT
;
arginine
;
glycine amidinotransferase
;
ddH20
;
distilled deionized water
;
ACN
;
acetonitrile
;
ACMG
;
American college of medical genetics
;
Human gene
;
GAMT (HGNC
;
416)
;
guanidinoacetate N-methyltransferase
;
Human gene
;
SLC6A8
(HGNC
;
11055)
;
solute carrier family 6 (neurotransmitter transporter)
;
member 8
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Treatment of Creatine Transporter (
SLC6A8
) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements
作者:
Sravan Jaggumantri
;
B.Tech
a
;
b
;
Mary Dunbar
;
MD
c
;
Vanessa Edgar
a
;
Cristina Mignone
;
MD
d
;
Theresa Newlove
;
MS
e
;
Rajavel Elango
;
PhD
b
;
f
;
Jean Paul Collet
;
MD
;
PhD
b
;
f
;
Michael Sargent
;
MD
d
;
Sylvia Stockler-Ipsiroglu
;
MD
;
PhD
a
;
f
;
Clara D.M. van Karnebeek
;
MD
;
PhD
a
;
b
;
f
;
g
;
cvankarnebeek@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author
关键词:
Cerebral creatine deficiency
;
therapy
;
personalized medicine
;
behavior
;
MR spectroscopy
;
speech
;
global developmental delay
;
seizures
刊名:Pediatric Neurology
出版年:2015
4.
Creatine biosynthesis and transport in health and disease
作者:
Marie Joncquel-Chevalier Curt
a
;
b
;
Pia-Manuela Voicu
c
;
Monique Fontaine
a
;
b
;
Anne-Fré
;
dé
;
rique Dessein
a
;
Nicole Porchet
a
;
h
;
Karine Mention-Mulliez
b
;
d
;
Dries Dobbelaere
b
;
d
;
Gustavo Soto-Ares
e
;
David Cheillan
f
;
g
;
Joseph Vamecq
a
;
b
;
h
;
joseph.vamecq@inserm.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
Creatine
;
AGAT
;
GAMT
;
SLC6A8
;
CRTR
;
AMP activated protein kinase
;
Secondary creatine disorders
刊名:Biochimie
出版年:2015
5.
Detection of variants in
SLC6A8
and functional analysis of unclassified missense variants
作者:
Ofir T. Betsalel
a
;
Ana Pop
a
;
Efraim H. Rosenberg
b
;
Matilde Fernandez-Ojeda
a
;
Creatine Transporter Research
;
Group
1
;
Cornelis Jakobs
a
;
Gajja S. Salomons
a
;
g.salomons@vumc.nl
关键词:
SLC6A8
;
Creatine transporter
;
Missense variants
;
LOVD
;
DHPLC
刊名:Molecular Genetics and Metabolism
出版年:2012
6.
Contiguous deletion of
SLC6A8
and BAP31 in a patient with severe dystonia and sensorineural deafness
作者:
Hitoshi Osaka
a
;
hosaka@kcmc.jp
;
Atsushi Takagi
a
;
Yu Tsuyusaki
a
;
Takahito Wada
a
;
Mizue Iai
a
;
Sumimasa Yamashita
a
;
Hiroko Shimbo
a
;
Hirotomo Saitsu
c
;
Gajja S. Salomons
d
;
Cornelis Jakobs
d
;
Noriko Aida
b
;
Shinka Toshihiro
e
;
Tomiko Kuhara
e
;
Naomichi Matsumoto
c
关键词:
ATP-binding cassette
;
sub-family D
;
member 1 (ABCD1)
;
B-cell receptor-associated protein (BAP31)
;
Solute carrier family 6
;
member 8 (
SLC6A8
)
;
Xq28 deletion syndrome
刊名:Molecular Genetics and Metabolism
出版年:2012
7.
Language disorder with mild intellectual disability in a child affected by a novel mutation of
SLC6A8
gene
作者:
R. Battini
a
;
A.M. Chilosi
a
;
M. Casarano
a
;
F. Moro
a
;
A. Comparini
a
;
M.G. Alessandrì
;
a
;
V. Leuzzi
b
;
M. Tosetti
a
;
G. Cioni
a
;
c
;
gcioni@inpe.unipi.it
关键词:
XLMR
;
Creatine metabolism and transport
;
CT1 deficiency
;
SLC6A8
gene mutation
;
Mild phenotype
;
Language impairment
刊名:Molecular Genetics and Metabolism
出版年:2011
8.
Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes
作者:
Joseph D.T. Ndika
;
Vera Lusink
;
Claudine Beaubrun
;
Warsha Kanhai
;
Cristina Martinez-Munoz
;
Cornelis Jakobs
;
Gajja S. Salomons
关键词:
ATP
;
adenosine triphosphate
;
bp
;
base pair
;
kb
;
kilo base pair
;
cDNA
;
DNA complementary to RNA
;
GAPDH
;
Glyceraldehyde 3-phosphate dehydrogenase
;
gDNA
;
genomic DNA
;
EGFP
;
enhanced green fluorescent protein
;
SV40
;
Simian virus 40
;
chr
;
chromosome
;
MEFs
;
mouse embryo fibroblasts
;
HEK293
;
human embryonic kidney cell line
;
3T3 Swiss
;
mouse fibroblast cell line
;
SK-N-SH
;
human neuroblastoma cell line
;
mRNA
;
messenger RNA
;
miRNA
;
microRNA
;
ORF
;
open reading frame
;
PCR
;
polymerase chain reaction
;
RTPCR
刊名:Gene
出版年:10 January, 2014
9.
Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing
作者:
Joseph D.T. Ndika
a
;
b
;
Cristina Martinez-Munoz
a
;
Nandaja Anand
a
;
Silvy J.M. van Dooren
a
;
Warsha Kanhai
a
;
Desiree E.C. Smith
a
;
Cornelis Jakobs
a
;
Gajja S. Salomons
a
;
b
;
c
;
g.salomons@vumc.nl" class="auth_mail
关键词:
Na+/Cl&minus
;
cotransporter
;
Creatine transporter
;
Alternative splicing
;
Creatine uptake upregulation
;
Intellectual disability
刊名:Biochimica et Biophysica Acta (BBA)/General Subjects
出版年:June 2014
10.
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing
作者:
Hui Yu
;
Clara van Karnebeek
;
Graham Sinclair
;
Alan Hill
;
Hong Cui
;
Victor Wei Zhang
;
Lee-Jun Wong
关键词:
Creatine transporter deficiency
;
Duplication
;
Gene rearrangement
;
Massively parallel sequencing
;
Molecular diagnostics
;
Pseudogenes
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
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