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Springer电子图书(15)
CNKI学位论文(496)
CNKI期刊论文0611(2)
知网期刊论文(559)
在“
Elsevier电子期刊
”中,
命中:
943
条,耗时:0.0659677 秒
在所有数据库中总计命中:
1,072
条
1.
Screening, diagnosis, and management of patients with
Fabry
disease
: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
作者:
Raphael Schiffmann
1
;
raphael.schiffmann@baylorhealth.edu
;
Derralynn A. Hughes
2
;
Gabor E. Linthorst
3
;
Alberto Ortiz
4
;
Einar Svarstad
5
;
6
;
David G. Warnock
7
;
Michael L. West
8
;
Christoph Wanner
9
;
wanner_c@ukw.de
;
for Conference Participants
10
;
Daniel G. Bichet
;
Erik Ilsø
;
Christensen
;
Ricardo Correa-Rotter
;
Perry M. Elliott
;
Sandro Feriozzi
;
Agnes B. Fogo
;
Dominique P. Germain
;
Carla E.M. Hollak
;
Robert J. Hopkin
;
Jack Johnson
;
Ilkka Kantola
;
Jeffrey B. Kopp
;
Jü
;
rgen Krö
;
ner
;
Ale&scaron
;
Linhart
;
Ana Maria Martins
;
Dietrich Matern
;
Atul B. Mehta
;
Renzo Mignani
;
Behzad Najafian
;
Ichiei Narita
;
Kathy Nicholls
;
Greg T. Obrador
;
Joã
;
o Paulo Oliveira
;
Antonio Pisani
;
Juan Politei
;
Uma Ramaswami
;
Markus Ries
;
Wim Terryn
;
Camilla Tø
;
ndel
;
Roser Torra
;
Bojan Vujkovac
;
Stephen Waldek
;
Jerry Walter
关键词:
chronic kidney
disease
;
enzyme replacement therapy
;
Fabry
disease
;
Fabry
nephropathy
;
standard of care
刊名:Kidney International
出版年:2017
2.
Rapid preparation of (3R,4S,5R) polyhydroxylated pyrrolidine-based libraries to discover a pharmacological chaperone for treatment of
Fabry
disease
作者:
Wei-Chieh Cheng
a
;
b
;
wcheng@gate.sinica.edu.tw
;
Jen-Hon Wang
a
;
b
;
Wen-Yi Yun
a
;
Huang-Yi Li
a
;
Jia-Ming Hu
a
关键词:
Azasugar
;
Polyhydroxylated pyrrolidine
;
Fabry
disease
;
Pharmacological chaperone
;
Combinatorial chemistry
;
Lysosomal α-galactosidase
刊名:European Journal of Medicinal Chemistry
出版年:2017
3.
Prevalence and clinical features of
Fabry
disease
in Japanese male patients with diagnosis of hypertrophic cardiomyopathy
作者:
Toru Kubo
;
MD
;
FJCC
a
;
jm-kubotoru@kochi-u.ac.jp
;
Yuri Ochi
;
MD
a
;
Yuichi Baba
;
MD
a
;
Takayoshi Hirota
;
MD
a
;
Katsutoshi Tanioka
;
MD
a
;
Naohito Yamasaki
;
MD
a
;
Makoto Yoshimitsu
;
MD
b
;
Koji Higuchi
;
MD
b
;
Toshihiro Takenaka
;
MD
;
FJCC
b
;
Kimiko Nakajima
;
MD
c
;
Tadayasu Togawa
;
PhD
d
;
Takahiro Tsukimura
;
PhD
d
;
Shigetoshi Sano
;
MD
c
;
Chuwa Tei
;
MD
;
FJCC
b
;
Hitoshi Sakuraba
;
MD
e
;
Hiroaki Kitaoka
;
MD
;
FJCC
a
关键词:
Fabry
disease
;
Hypertrophic cardiomyopathy
;
Prevalence
刊名:Journal of Cardiology
出版年:2017
4.
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of
Fabry
disease
heterozygotes
作者:
Albina Nowak
a
;
albina.nowak@usz.ch
;
Thomas P. Mechtler
b
;
t.mechtler@archimedlife.com
;
Robert J. Desnick
c
;
robert.desnick@mssm.edu
;
David C. Kasper
b
;
d.kasper@archimedlife.com
关键词:
Fabry
disease
;
Heterozygotes
;
LysoGb3
;
Biomarker
;
α-galactosidase deficiency
刊名:Molecular Genetics and Metabolism
出版年:2017
5.
Impaired Left Atrial Function in
Fabry
Disease
: A Longitudinal Speckle-Tracking Echocardiography Study
作者:
Maxime Pichette
;
MD
;
Karim Serri
;
MD
;
Maude Pagé
;
MD
;
Lu Zhao Di
;
MD
;
Daniel G. Bichet
;
MD
;
MSc
;
Fré
;
dé
;
ric Poulin
;
MD
;
MSc
;
f.poulin@umontreal.ca
关键词:
Fabry
disease
;
Speckle-tracking echocardiography
;
Left atrial function
;
Atrial strain
;
Atrial fibrillation
刊名:Journal of the American Society of Echocardiography
出版年:2017
6.
Differences in cleavage of globotriaosylceramide and its derivatives accumulated in organs of young
Fabry
mice following enzyme replacement therapy
作者:
Takashi Kodama
a
;
Takahiro Tsukimura
a
;
Ikuo Kawashima
b
;
Atsuko Sato
c
;
Hitoshi Sakuraba
c
;
Tadayasu Togawa
a
;
tadayasu@my-pharm.ac.jp
关键词:
Fabry
disease
;
α-Galactosidase A
;
α-Galactosidase A knockout mouse
;
Globotriaosylceramide
;
Globotriaosylsphingosine
;
Enzyme replacement therapy
刊名:Molecular Genetics and Metabolism
出版年:2017
7.
Natural history data from 182 female patients with
Fabry
disease
in Latin America: A Fabry Registry analysis of
disease
burden
刊名:Molecular Genetics and Metabolism
出版年:2017
8.
Is
Fabry
disease
frequently undiagnosed in patients with common heart
disease
?
作者:
Raphael Schiffmann
a
;
Caren Swift
a
;
Nathan McNeill
a
;
Elfrida R Benjamin
b
;
Lawrence Sweetman
a
;
Xuan Wang
a
;
Xiaoyang Wu
b
刊名:Molecular Genetics and Metabolism
出版年:2017
9.
Ophthalmologic findings in
Fabry
disease
patients: relation to
disease
severity and to enzyme replacement therapy in a Mexican family
作者:
Araceli Borja-Borja
a
;
Gabriela Salas-Pé
;
rez
a
;
Jorge Gutié
;
rrez-Ponce
a
;
Antonio Sá
;
nchez-Acosta
a
;
Pablo Radillo-Dí
;
az
b
;
Fá
;
tima Sierra
c
;
Juan C Garcí
;
a-Pé
;
rez
d
刊名:Molecular Genetics and Metabolism
出版年:2017
10.
The phenotypic characteristics of the p.N215S
Fabry
disease
genotype in male and female patients: a multi-center Fabry Registry study
作者:
Dominique P. Germain
a
;
Eva Brand
b
;
Franco Cecchi
c
;
Judy Kempf
d
;
Dawn A. Laney
e
;
Ale&scaron
;
Linhart
f
;
Lá
;
szló
;
Maró
;
di
g
;
Kathy Nicholls
h
;
Federico Pieruzzi
i
;
Suma P. Shankar
e
;
Stephan Waldek
j
;
Christoph Wanner
k
;
Ana Jovanovic
l
刊名:Molecular Genetics and Metabolism
出版年:2017
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