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Elsevier电子期刊(158)
在“
Elsevier电子期刊
”中,
命中:
158
条,耗时:小于0.01 秒
在所有数据库中总计命中:
158
条
1.
Biallelic Mutations in DNAJC12 Cause
Hyperphenylalanine
mia, Dystonia, and Intellectual Disability
作者:
Yair Anikster
1
;
2
;
3
;
24
;
yair.anikster@sheba.health.gov.il
;
Tobias B. Haack
4
;
5
;
24
;
Thierry Vilboux
6
;
7
;
24
;
Ben Pode-Shakked
1
;
2
;
8
;
24
;
Beat Thö
;
ny
9
;
24
;
Nan Shen
10
;
Virginia Guarani
11
;
Thomas Meissner
12
;
Ertan Mayatepek
12
;
Friedrich K. Trefz
10
;
Dina Marek-Yagel
1
;
2
;
3
;
Aurora Martinez
13
;
Edward L. Huttlin
11
;
Joao A. Paulo
11
;
Riccardo Berutti
4
;
5
;
Jean-Franç
;
ois Benoist
14
;
Apolline Imbard
14
;
Imen Dorboz
15
;
Gali Heimer
2
;
8
;
16
;
Yuval Landau
1
;
2
;
Limor Ziv-Strasser
17
;
May Christine V. Malicdan
6
;
7
;
18
;
Corinne Gemperle-Britschgi
9
;
Kirsten Cremer
19
;
Hartmut Engels
19
;
David Meili
9
;
Irene Keller
20
;
21
;
Ré
;
my Bruggmann
20
;
Tim M. Strom
4
;
5
;
Thomas Meitinger
4
;
5
;
James C. Mullikin
22
;
Gerard Schwartz
1
;
2
;
Bruria Ben-Zeev
2
;
16
;
William A. Gahl
18
;
J. Wade Harper
11
;
Nenad Blau
10
;
Georg F. Hoffmann
10
;
Holger Prokisch
4
;
5
;
24
;
Thomas Opladen
10
;
24
;
Manuel Schiff
15
;
23
;
24
;
manuel.schiff@aphp.fr
关键词:
DNAJC12
;
hyperphenylalanine
mia
;
dystonia
;
neurotransmitter deficiency
;
phenylketonuria
;
tetrahydrobiopterin
;
BH4
;
newborn screening
刊名:The American Journal of Human Genetics
出版年:2017
2.
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria
作者:
Chike Bellarmine Item
;
bellarmine.item@meduniwien.ac.at
;
Sharmane Escueta
;
Andrea Schanzer
;
Somayeh Farhadi
;
Thomas Metz
;
Maximilian Zeyda
;
Dorothea Mö
;
slinger
;
Susanne Greber-Platzer
;
Vassiliki Konstantopoulou
关键词:
GPX3
;
glutathione peroxidase 3
;
CpG
;
cytosine phosphodiester bond guanine
;
PKU
;
phenylketonuria
;
phe
;
phenylalanine
刊名:Clinical Biochemistry
出版年:2017
3.
DNA methylation in the pathophysiology of
hyperphenylalanine
mia in the PAH
enu2
mouse model of phenylketonuria
作者:
S.F. Dobrowolski
a
;
dobrowolskis@upmc.edu" class="auth_mail" title="E-mail the corresponding author
;
J. Lyons-Weiler
b
;
K. Spridik
a
;
J. Vockley
c
;
d
;
K. Skvorak
c
;
d
;
A. Biery
a
关键词:
PAHenu2
;
DNA methylation
;
Phenylketonuria
;
Toxicity
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population
作者:
Corinne Gemperle-Britschgi
a
;
Daniela Iorgulescu
b
;
Monica Alina Mager
c
;
Dana Anton-Paduraru
d
;
Romana Vulturar
e
;
f
;
vulturar.romana@umfcluj.ro" class="auth_mail" title="E-mail the corresponding author
;
romanavulturar@yahoo.co.uk" class="auth_mail" title="E-mail the corresponding author
;
Beat Thö
;
ny
a
;
g
;
h
;
i
;
j
;
beat.thony@kispi.uzh.ch" class="auth_mail" title="E-mail the corresponding author
关键词:
PAH
;
phenylalanine hydroxylase
;
HPA
;
hyperphenylalanine
mia
;
PKU
;
phenylketonuria
;
BH4
;
tetrahydrobiopterin
;
L-Phe
;
phenylalanine
;
MLPA
;
multiplex ligation-dependent probe amplification
;
NGS
;
next generation sequencing
刊名:Gene
出版年:2016
5.
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
作者:
Nan Shen
a
;
Caroline Heintz
b
;
Christian Thiel
a
;
Jü
;
rgen G. Okun
a
;
Georg F. Hoffmann
a
;
Nenad Blau
a
;
nenad.blau@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Tetrahydrobiopterin
;
Phenylketonuria
;
PKU
;
Hyperphenylalanine
mia
刊名:Molecular Genetics and Metabolism
出版年:2016
6.
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)
作者:
Shelley R. Winn
a
;
Tanja Scherer
b
;
Beat Thö
;
ny
b
;
Cary O. Harding
a
;
hardingc@ohsu.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
BH4
;
tetrahydrobiopterin
;
TH
;
tyrosine hydroxylase
;
TPH
;
tryptophan hydroxylase
;
HVA
;
homovanillic acid
;
5-HIAA
;
5-hydroxyindoleacetic acid
刊名:Molecular Genetics and Metabolism
出版年:2016
7.
Mutation analysis in mild
hyperphenylalanine
mia (HPA) patients 鈥?Whom and what to screen?
作者:
Urh Groselj
;
Mojca Zerjav Tansek
;
Katarina Trebusak Podkrajsek
;
Tadej Battelino
关键词:
Hyperphenylalanine
mia
;
Mutation analysis
;
Large deletions
;
PAH gene
刊名:Clinical Biochemistry
出版年:February, 2014
8.
Mutation analysis in
hyperphenylalanine
mia patients from South Italy
作者:
Roberta Trunzo
;
Rosa Santacroce
;
Giovanna D'Andrea
;
Vittoria Longo
;
Giuseppe De Girolamo
;
Claudia Dimatteo
;
Angelica Leccese
;
Vincenza Lillo
;
Francesco Papadia
;
Maurizio Margaglione
关键词:
Hyperphenylalanine
mia
;
Mutation analysis
;
Gene phenylalanine hydroxylase (PAH)
刊名:Clinical Biochemistry
出版年:December, 2013
9.
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees
作者:
Roberta Trunzo
;
Rosa Santacroce
;
Giovanna D鈥橝ndrea
;
Vittoria Longo
;
Giuseppe De Girolamo
;
Claudia Dimatteo
;
Angelica Leccese
;
Vincenza Lillo
;
Francesco Papadia
;
Maurizio Margaglione
关键词:
Hyperphenylalanine
mia
;
Gene PAH
;
Discordant phenotypes
刊名:Clinical Biochemistry
出版年:February, 2014
10.
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation
作者:
Hiroki Sato
;
Mitsugu Uematsu
;
Wakaba Endo
;
Tojo Nakayama
;
Tomoko Kobayashi
;
Naomi Hino-Fukuyo
;
Osamu Sakamoto
;
Haruo Shintaku
;
Shigeo Kure
关键词:
Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH)
;
Tetrahydrobiopterin (BH4)
;
Hyperphenylalanine
mia
;
Early replacement therapy
刊名:Brain and Development
出版年:March, 2014
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