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CNKI学位论文(35)
知网期刊论文(11)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:0.0259882 秒
在所有数据库中总计命中:
46
条
1.
Impaired Left Atrial Function in Fabry Disease: A Lon
g
itudinal Speckle-Trackin
g
Echocardio
g
raphy Study
作者:
Maxime Pichette
;
MD
;
Karim Serri
;
MD
;
Maude Pa
g
é
;
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-trackin
g
echocardio
g
raphy
;
Left atrial function
;
Atrial strain
;
Atrial fibrillation
刊名:Journal of the American Society of Echocardio
g
raphy
出版年:2017
2.
Screenin
g
, dia
g
nosis, and mana
g
ement of patients with Fabry disease: conclusions from a “Kidney Disease: Improvin
g
Global Outcomes” (KDIGO) Controversies Conference
作者:
Raphael Schiffmann
1
;
raphael.schiffmann@baylorhealth.edu
;
Derralynn A. Hu
g
hes
2
;
G
abor 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
;
A
g
nes B. Fo
g
o
;
Dominique P.
G
ermain
;
Carla E.M. Hollak
;
Robert J. Hopkin
;
Jack Johnson
;
Ilkka Kantola
;
Jeffrey B. Kopp
;
Jü
;
r
g
en Krö
;
ner
;
Ale&scaron
;
Linhart
;
Ana Maria Martins
;
Dietrich Matern
;
Atul B. Mehta
;
Renzo Mi
g
nani
;
Behzad Najafian
;
Ichiei Narita
;
Kathy Nicholls
;
G
re
g
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
3.
G
enetic forms of nephro
g
enic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)
作者:
Daniel
G
.
Bichet
;
MD
a
;
b
;
c
;
daniel
.
bichet
@umontreal.ca" class="auth_mail" title="E-mail the correspondin
g
author
;
Detlef Bockenhauer
;
MD
;
PhD
d
;
d.bockenhauer@ucl.ac.uk" class="auth_mail" title="E-mail the correspondin
g
author
关键词:
Nephro
g
enic diabetes insipidus
;
X-linked nephro
g
enic diabetes insipidus
;
Autosomal recessive nephro
g
enic diabetes insipidus
;
AVPR2
;
AQP2
;
Dehydration
;
Misfolded proteins
;
Cyclic AMP
刊名:Best Practice Research Clinical Endocrinolo
g
y Metabolism
出版年:2016
4.
Prospective Results of Switchin
g
Enzyme Replacement Therapy from A
g
alsidase beta to A
g
alsidase alfa in the Canadian Fabry Disease Initiative Study
作者:
Michael West
;
Daniel
Bichet
;
Robin Casey
;
Joe Clarke
;
Sandra Sirrs
;
G
ordon Flowerdew
;
Kaye LeMoine
刊名:Molecular
G
enetics and Metabolism
出版年:2012
5.
A validated disease severity scorin
g
system for Fabry disease
作者:
Edward H.
G
iannini
;
Atul B. Mehta
;
Max J. Hilz
;
Michael Beck
;
Daniel
G
.
Bichet
;
Roscoe O. Brady
;
Michael West
;
Dominique P.
G
ermain
;
Christoph Wanner
;
Stephen Waldek
;
Joe T.R. Clarke
;
Eu
g
en Men
g
el
;
J&
关键词:
Fabry disease
;
Severity scorin
g
;
Inherited metabolic disorder
;
DS3
;
α
;
-
G
alactosidase A
刊名:Molecular
G
enetics and Metabolism
出版年:2010
6.
How well does urinary lyso-
G
b
3
function as a biomarker in Fabry disease?
作者:
Christiane Auray-Blais
;
Aimé
;
Ntwari
;
Joe T.R. Clarke
;
David
G
. Warnock
;
Joã
;
o Paulo Oliveira
;
Sarah P. Youn
g
;
David S. Millin
g
ton
;
Daniel
G
.
Bichet
;
S
;
ra Sirrs
;
Michael L. West
;
Robin Casey
关键词:
Lyso-
G
b
3
;
Fabry disease
;
G
b
3
;
Liquid chromato
g
raphy–
;
tandem mass spectrometry
;
LC–
;
MS/MS
;
Time-of-fli
g
ht mass spectrometry
刊名:Clinica Chimica Acta
出版年:2010
7.
140. A validated disease severity scorin
g
system for Fabry disease
作者:
Stephen Waldek
;
Edward
G
iannini
;
Atul Mehta
;
Max Hilz
;
Michael Beck
;
Daniel
Bichet
;
Roscoe Brady
;
Michael West
;
Dominique
G
ermain
;
Christoph Wanner
;
Joe Clarke
;
David Warnock
;
Ales Linhart
刊名:Molecular
G
enetics and Metabolism
出版年:2010
8.
148. A randomized controlled trial of enzyme replacement therapy in Fabry disease: The Canadian Fabry disease initiative at year three
作者:
Michael West
;
Kaye LeMoine
;
Daniel
Bichet
;
Joe Clarke
;
Robin Casey
;
S
;
ra Sirrs
;
Christiane Auray-Blais
;
David Sinasac
;
G
ordon Flowerdew
刊名:Molecular
G
enetics and Metabolism
出版年:2010
9.
Vasopressin Receptor Mutations in Nephro
g
enic Diabetes Insipidus
作者:
Daniel
G
.
Bichet
;
MD
;
Daniel
.
bichet
@umontreal.ca
关键词:
Nephro
g
enic diabetes insipidus
;
AVPR2 mutations
;
mutational analysis
;
misfolded mutants
;
pharmacolo
g
ical chaperones
刊名:Seminars in Nephrolo
g
y
出版年:2008
10.
Urinary
g
lobotriaosylceramide excretion correlates with the
g
enotype in children and adults with Fabry disease
作者:
Christiane Auray-Blais
;
Denis Cyr
;
Aimé
;
Ntwari
;
Michael L. West
;
Josanne Cox-Brinkman
;
Daniel
G
.
Bichet
;
Dominique P.
G
ermain
;
Rachel Laframboise
;
Ser
g
e B. Melanç
;
on
;
Tracy Stockley
;
Joe T.R.
关键词:
Fabry disease
;
G
enotype–
;
phenotype correlations
;
G
lobotriaosylceramide
;
G
b
3
;
Liquid chromato
g
raphy–
;
tandem mass spectrometry
;
LC–
;
MS/MS
;
Urine filter paper sample
;
Creatinine
;
G
b
3
/creatinine levels
刊名:Molecular
G
enetics and Metabolism
出版年:2008
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