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内部出版物
知网期刊论文(2)
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:0.0779626 秒
在所有数据库中总计命中:
2
条
1.
Gaucher disease: Progress and ongoing challenges
作者:
Pramod K. Mistry
a
;
Pramod.mistry@yale.
edu
;
Grisel Lopez
b
;
glopez@mail.nih.gov
;
Raphael
Schiffmann
c
;
Raphael
.
Schiffmann
@BSWHealth.org
;
Norman W. Barton
d
;
nbarton@shire.com
;
Neal J. Weinreb
e
;
boneal@winning.com
;
Ellen Sidransky
b
;
sidranse@mail.nih.gov
关键词:
ERT
;
enzyme replacement therapy
;
SRT
;
substrate r
edu
ction therapy
;
iPSC
;
induced pluripotent stem cells
;
GBA1
;
the glucocerebrosidase gene
;
CBE
;
conduritol β-epoxide
;
HSP
;
heat shock protein
;
ER
;
endoplasmic reticulum
;
HDAC
;
histone deacetylase
;
NIH
;
National Institutes of Health
;
FDA
;
Food and Drug Administration
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
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
3.
Oxidative stress reflected by increased F
2
-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B
2
levels in patients with coronary artery disease
作者:
Peter A. McCullough
;
MD
;
MPH
a
;
b
;
c
;
d
;
e
;
peteramccullough@gmail.com
;
Anupama Vasudevan
;
BDS
;
MPH
;
PhD
b
;
e
;
f
;
Anupama.Vasudevan@BSWHealth.org
;
Luis R. Lopez
;
MD
g
;
LLopez@corgenix.com
;
Caren Swift
;
RN
;
BSN
f
;
h
;
Caren.Swift@BSWHealth.org
;
Margarita Peterson
f
;
h
;
mpeters@wakehealth.
edu
;
Jeanna Bennett-Firmin
f
;
h
;
Jeanna.bennettfirmin@bswhealth.org
;
Raphael
Schiffmann
;
MD
;
MHSc
f
;
h
;
Raphael
.
Schiffmann
@BSWHealth.org
;
Teodoro Bottiglieri
;
PhD
f
;
h
;
Teodoro.Bottiglieri@BSWHealth.org
刊名:Thrombosis Research
出版年:2016
4.
A welcome introduction to leukodystrophies
作者:
Raphael
Schiffmann
;
;
p15099@BaylorHealth.
edu
刊名:Lancet Neurology
出版年:2011
1
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