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CNKI期刊论文0611(1)
知网期刊论文(1015)
在“
Elsevier电子期刊
”中,
命中:
1,283
条,耗时:0.0709687 秒
在所有数据库中总计命中:
4,230
条
1.
Alglucosidase alfa
enzyme
replacement
therapy
as a therapeutic approach for a patient presenting with a PRKAG2 mutation
作者:
Stephanie L. Austin
a
;
Andrew Chiou
a
;
Baodong Sun
a
;
Laura E. Case
b
;
Kenny Govendrageloo
c
;
Perrin Hansen
d
;
Priya S. Kishnani
a
;
priya.kishnani@dm.duke.edu
关键词:
ERT
;
enzyme
replacement
therapy
;
GAA
;
acid alpha-glucosidase
;
GSD
;
glycogen storage diseases
;
AMPK
;
AMP-activated protein kinase
;
rhGAA
;
recombinant human GAA
;
IVS
;
interventricular septum
;
LVPW
;
left ventricular posterior wall
;
PT
;
physical
therapy
;
AST
;
aspartate aminotransferase
;
ALT
;
alanine transaminase
;
MABC
;
Movement ABC
;
MDC
;
minimal detectable change
;
MID
;
minimal important difference
;
M-FUN
;
Miller Function and Participation Scales
;
GLUT4
;
glucose transporter 4
;
G6P
;
glucose 6-phosphat
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
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
3.
The metabolism of glucocerebrosides — From 1965 to the present
作者:
Anthony H. Futerman
a
;
tony.futerman@weizmann.ac.il
;
Frances M. Platt
b
关键词:
Gaucher disease
;
Glucosylceramide
;
Enzyme
replacement
therapy
;
Substrate reduction
therapy
刊名:Molecular Genetics and Metabolism
出版年:2017
4.
Inspiratory muscle conditioning exercise and diaphragm gene
therapy
in Pompe disease: Clinical evidence of respiratory plasticity
作者:
Barbara K. Smith
a
;
b
;
bksmith@phhp.ufl.edu" class="auth_mail" title="E-mail the corresponding author
;
A. Daniel Martin
a
;
Lee Ann Lawson
b
;
Valerie Vernot
c
;
Jordan Marcus
e
;
Saleem Islam
d
;
Nadeem Shafi
f
;
Manuela Corti
b
;
Shelley W. Collins
b
;
Barry J. Byrne
b
关键词:
ERT
;
Enzyme
replacement
therapy
;
GAA
;
α-glucosidase
;
IMST
;
Inspiratory muscle strength training
;
LC
;
Load compensation
;
MIP
;
Maximal inspiratory pressure
;
MRI
;
Magnetic resonance imaging
;
MV
;
Mechanical ventilation
刊名:Experimental Neurology
出版年:2017
5.
Types A and B Niemann-Pick disease
作者:
Edward H. Schuchman
;
edward.schuchman@mssm.edu
;
Robert J. Desnick
关键词:
Niemann-Pick
;
Acid sphingomyelinase
;
Sphingomyelin
;
Mouse model
;
Enzyme
Replacement
Therapy
刊名:Molecular Genetics and Metabolism
出版年:2017
6.
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
7.
Lysosomal acid lipase deficiency: Expanding differential diagnosis
作者:
Vassili Valayannopoulos
a
;
vassilival.boston@gmail.com
;
Eugen Mengel
b
;
Anais Brassier
a
;
Gregory Grabowski
c
关键词:
Lysosomal acid lipase deficiency
;
Lysosomal storage disease
;
Microvesicular steatosis
;
Dyslipidemia
;
Enzyme
replacement
therapy
;
Hepatomegaly
刊名:Molecular Genetics and Metabolism
出版年:2017
8.
Mucopolysaccharidosis IVA and glycosaminoglycans
作者:
Shaukat Khan
a
;
1
;
Carlos J. Almé
;
ciga-Dí
;
az
b
;
1
;
Kazuki Sawamoto
a
;
William G. Mackenzie
a
;
Mary C. Theroux
a
;
Christian Pizarro
a
;
Robert W. Mason
a
;
Tadao Orii
c
;
Shunji Tomatsu
a
;
c
;
d
;
stomatsu@nemours.org
;
stomatsu@gifu-u.ac.jp
关键词:
MPS
;
mucopolysaccharidosis
;
GAG
;
glycosaminoglycans
;
C6S
;
chondroitin-6-sulfate
;
KS
;
keratin sulfate
;
ECM
;
extracellular matrix
;
GALNS
;
N-acetylgalactosamine 6-sulfate sulfatase
;
LC-MS/MS
;
liquid chromatography/tandem mass spectrometry
;
LSD
;
lysosomal storage disorder
;
DBS
;
dried blood spot
;
DMB
;
dimethylmethylene blue
;
ERT
;
enzyme
replacement
therapy
;
6MWT
;
6
;
min walk test
;
3MSCT
;
3
;
min stair climb test
;
ADL
;
activity of daily living
;
HSCT
;
Hematopoietic Stem Cell
Therapy
;
BMT
;
bone m
刊名:Molecular Genetics and Metabolism
出版年:2017
9.
Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease
作者:
Deborah Elstein
a
;
1
;
delstein-c@shire.com
;
T. Andrew Burrow
b
;
Joel Charrow
c
;
Pilar Giraldo
d
;
e
;
Atul Mehta
f
;
Gregory M. Pastores
g
;
h
;
Hak-Myung Lee
i
;
Bjö
;
rn Mellgard
j
;
Ari Zimran
a
关键词:
AE
;
adverse event
;
EAP
;
early access program
;
ERT
;
enzyme
replacement
therapy
;
GD1
;
type 1 Gaucher disease
;
IRAE
;
infusion-related adverse event
刊名:Molecular Genetics and Metabolism
出版年:2017
10.
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 reduction
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
1
2
3
4
5
6
7
8
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