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知网期刊论文(1)
在“
Elsevier电子期刊
”中，
命中：
31
条，耗时：小于0.01 秒
在所有数据库中总计命中：
1
条
1.
Scr
ee
ning, diagnosis, and
m
anag
eme
nt of pati
e
nts with Fabry dis
e
as
e
: conclusions fro
m
a “Kidn
e
y Dis
e
as
e
: I
m
proving Global Outco
me
s” (KDIGO) Controv
e
rsi
e
s Conf
e
r
e
nc
e
作者：
Rapha
e
l Schiff
m
ann
1
;
rapha
e
l.schiff
m
ann@baylorh
e
alth.
e
du
;
D
e
rralynn A. Hugh
e
s
2
;
Gabor
E
. Linthorst
3
;
Alb
e
rto Ortiz
4
;
E
inar Svarstad
5
;
6
;
David G. Warnock
7
;
M
icha
e
l L. W
e
st
8
;
Christoph Wann
e
r
9
;
wann
e
r_c@ukw.d
e
;
for Conf
e
r
e
nc
e
Participants
10
;
Dani
e
l G. Bich
e
t
;
E
rik Ilsø
;
Christ
e
ns
e
n
;
Ricardo Corr
e
a-Rott
e
r
;
P
e
rry
M
. Elliott
;
Sandro F
e
riozzi
;
Agn
e
s B. Fogo
;
Do
m
iniqu
e
P. G
e
r
m
ain
;
Carla
E
.
M
.
Hollak
;
Rob
e
rt J. Hopkin
;
Jack Johnson
;
Ilkka Kantola
;
J
e
ffr
e
y B. Kopp
;
J&uu
m
l
;
rg
e
n Kr&ou
m
l
;
n
e
r
;
Al
e
&scaron
;
Linhart
;
Ana
M
aria Martins
;
Di
e
trich
M
at
e
rn
;
Atul B.
Me
hta
;
R
e
nzo
M
ignani
;
B
e
hzad Najafian
;
Ichi
e
i Narita
;
Kathy Nicholls
;
Gr
e
g T. Obrador
;
Jo&atild
e
;
o Paulo Oliv
e
ira
;
Antonio Pisani
;
Juan Polit
e
i
;
U
m
a Ra
m
aswa
m
i
;
M
arkus Ri
e
s
;
Wi
m
T
e
rryn
;
Ca
m
illa Tø
;
nd
e
l
;
Ros
e
r Torra
;
Bojan Vujkovac
;
St
e
ph
e
n Wald
e
k
;
J
e
rry Walt
e
r
关键词：
chronic kidn
e
y dis
e
as
e
;
e
nzy
me
r
e
plac
eme
nt th
e
rapy
;
Fabry dis
e
as
e
;
Fabry n
e
phropathy
;
standard of car
e
刊名：Kidn
e
y Int
e
rnational
出版年：2017
2.
Discontinuation of
e
nzy
me
r
e
plac
eme
nt th
e
rapy in Fabry dis
e
as
e
in th
e
Dutch cohort
作者：
M
aart
e
n Ar
e
nds
m
.ar
e
nds@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Gabor
E
. Linthorst
g.
e
.linthorst@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Carla
E
.
Hollak
c.
e
.
hollak
@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
M
ari
e
k
e
Bi
e
gstraat
e
n
;
m
.bi
e
gstraat
e
n@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
关键词：
CKD
;
chronic kidn
e
y dis
e
as
e
;
E
FWG
;
E
urop
e
an Fabry Working Group
;
e
GFR
;
e
sti
m
at
e
d glo
me
rular filtration rat
e
;
E
SRD
;
e
nd stag
e
r
e
nal dis
e
as
e
;
E
RT
;
e
nzy
me
r
e
plac
eme
nt th
e
rapy
;
FD
;
Fabry dis
e
as
e
;
LVH
;
l
e
ft v
e
ntricular hyp
e
rtrophy
;
LV
M
I
;
l
e
ft v
e
ntricular
m
ass ind
e
x
;
W
M
Ls
;
whit
e
m
att
e
r l
e
sions
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：2016
3.
Hyp
e
rf
e
rritin
em
ia and iron
me
tabolis
m
in Gauch
e
r dis
e
as
e
: Pot
e
ntial pathophysiological i
m
plications
作者：
M
artin
e
R
e
g
e
nboog
a
;
1
;
m
.r
e
g
e
nboog@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Andr&
e
acut
e
;
B.P. van Kuil
e
nburg
b
;
2
;
a.b.vankuil
e
nburg@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Joann
e
V
e
rh
e
ij
c
;
3
;
j.v
e
rh
e
ij@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Dorin
e
W. Swink
e
ls
d
;
4
;
dorin
e
.swink
e
ls@radboudu
m
c.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
Carla
E
.
M
.
Hollak
a
;
1
;
c.
e
.
hollak
@a
m
c.uva.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
关键词：
Gauch
e
r dis
e
as
e
;
Iron
me
tabolis
m
;
F
e
rritin
;
H
e
pcidin
;
Carcinog
e
n
e
sis
刊名：Blood R
e
vi
e
ws
出版年：2016
4.
I
m
aging charact
e
ristics of focal spl
e
nic and h
e
patic l
e
sions in typ
e
1 Gauch
e
r dis
e
as
e
作者：
M
artin
e
R
e
g
e
nboog
a
;
b
;
Ann
e
lo
e
s E. Boht
e
a
;
Inn
e
So
me
rs
a
;
Otto
M
. van D
e
ld
e
n
a
;
M
ario Maas
a
;
Carla
E
.
M
.
Hollak
b
;
c.
e
.
hollak
@a
m
c.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
关键词：
GD
;
Gauch
e
r dis
e
as
e
;
HCC
;
h
e
patoc
e
llular carcino
m
a
;
M
RI
;
m
agn
e
tic r
e
sonanc
e
i
m
aging
;
CT
;
co
m
put
e
d to
m
ography
;
US
;
ultrasound
;
FNH
;
focal nodular hyp
e
rplasia
;
SSI
;
s
e
v
e
rity scor
e
ind
e
x
;
E
RT
;
e
nzy
me
r
e
plac
eme
nt th
e
rapy
;
SRT
;
substrat
e
r
e
duction th
e
rapy
刊名：Blood C
e
lls,
M
ol
e
cul
e
s and Dis
e
as
e
s
出版年：2016
5.
Post-authorisation ass
e
ss
me
nt of orphan drugs
作者：
Carla
E
M
Hollak
a
;
c.
e
.
hollak
@a
m
c.nl" class="auth_
m
ail" titl
e
="E-
m
ail th
e
corr
e
sponding author
;
M
ari
e
k
e
Bi
e
gstraat
e
n
a
;
M
arc
e
l L
e
vi
b
;
Rob Hag
e
ndijk
c
刊名：Th
e
Lanc
e
t
出版年：2015
6.
Cons
e
nsus r
e
co
mme
ndation on Fabry dis
e
as
e
diagnosis in adult pati
e
nts with kidn
e
y dis
e
as
e
作者：
Linda van d
e
r Tol
;
M
ari
e
k
e
Bi
e
gstraat
e
n
;
S
;
rin
e
Florquin
;
Liff
e
rt Vogt
;
M
arius A. van d
e
n B
e
rgh W
ee
r
m
an
;
Carla
E
.
M
.
Hollak
;
D
e
rralynn A. Hugh
e
s
;
Robin H. Lach
m
ann
;
Jo茫o P. Oliv
e
ira
;
Alb
e
rto A. Ortiz
;
E
inar Svarstad
;
Wi
m
T
e
rryn
;
Ca
m
illa T酶nd
e
l
;
St
e
ph
e
n Wald
e
k
;
Christoph Wann
e
r
;
M
icha
e
l L. W
e
st
;
Gabor
E
. Linthorst
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：F
e
bruary, 2014
7.
A cas
e
s
e
ri
e
s study on diagnostic dil
emm
as in Fabry dis
e
as
e
作者：
Bouwi
e
n S
m
id
;
Carla
Hollak
;
B
e
n Poorthuis
;
Jann
e
k
e
Ti
mme
r
m
ans
;
Gabor Linthorst
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：F
e
bruary, 2014
8.
Cons
e
nsus r
e
co
mme
ndation on Fabry dis
e
as
e
diagnosis in adult pati
e
nts with l
e
ft v
e
ntricular hyp
e
rtrophy
作者：
Bouwi
e
n S
m
id
;
Linda van d
e
r Tol
;
Franco C
e
cchi
;
P
e
rry Elliott
;
D
e
rralynn Hugh
e
s
;
Gabor Linthorst
;
Jann
e
k
e
Ti
mme
r
m
ans
;
Frank W
e
id
em
ann
;
M
icha
e
l W
e
st
;
M
ari
e
k
e
Bi
e
gstraat
e
n
;
Ronald L
e
kann
e
Dit D
e
pr
e
z
;
S
;
rin
e
Florquin
;
Pi
e
t
e
r Post
em
a
;
Allard van d
e
r Wal
;
M
arius van d
e
n B
e
rgh W
ee
r
m
an
;
Carla
Hollak
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：F
e
bruary, 2014
9.
E
DGE: A Phas
e
3 study
e
valuating onc
e
v
e
rsus twic
e
daily dosing of
e
liglustat in pati
e
nts with Gauch
e
r dis
e
as
e
typ
e
1: int
e
ri
m
r
e
sults fro
m
th
e
l
e
ad-in-p
e
riod
作者：
Jo
e
l Charrow
;
Hiroyuki Ida
;
Carla
Hollak
;
Do
m
inick A
m
ato
;
R
e
nata Cravo
;
Osa
m
u Kawaguchi
;
Yong Xu
e
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：F
e
bruary, 2014
10.
Corn
e
a v
e
rticillata as a diagnostic f
e
atur
e
in classical and non-classical Fabry dis
e
as
e
: r
e
sults fro
m
th
e
Dutch cohort and a syst
em
atic lit
e
ratur
e
r
e
vi
e
w
作者：
Linda van d
e
r Tol
;
M
arij
e
L. S
m
inia
;
Carla
E
.
M
.
Hollak
;
M
ari
e
k
e
Bi
e
gstraat
e
n
刊名：
M
ol
e
cular G
e
n
e
tics and M
e
tabolis
m
出版年：F
e
bruary, 2014
1
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