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SpringerLink电子期刊(1)
Elsevier电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
16
条
1.
Autopsy patho
l
ogy of infanti
l
e neuroviscera
l
ASMD (Niemann-Pick disease type A): c
l
inicopatho
l
ogic corre
l
ations of a case report and review of the
l
iterature
作者:
Beth
L
Thurberg
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:2017
2.
An open-
l
abe
l
, mu
l
ticenter, ascending dose study of the to
l
erabi
l
ity and safety of recombinant human acid sphingomye
l
inase (rhASM) in patients with ASM deficiency (ASMD)
作者:
Simon Jones
;
Me
l
issa Wasserstein
;
H
;
rean Soran
;
Catherine Breen
;
Beth
Thurberg
;
Kerry Cu
l
m-Merdek
;
Nata
l
ie Lippa
;
Brenda Pim
l
ott
;
Andrew Cunningham
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:February, 2014
3.
Enzyme rep
l
acement therapy reduces g
l
ycogen in ske
l
eta
l
musc
l
e biopsies of
l
ate-onset Pompe patients
作者:
Beth
Thurberg
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:2013
4.
Histo
l
ogic abnorma
l
ities of p
l
acenta
l
tissues in Fabry disease: a case report and review of the
l
iterature
作者:
Beth
L
.
Thurberg
;
MD
;
PhD
a
;
beth
.
thurberg
@genzyme.com
;
Juan M. Po
l
itei
;
MD
b
关键词:
Fabry disease
;
P
l
acenta
;
G
l
obotriaosy
l
ceramide
;
¦Á-Ga
l
actosidase A
;
L
ysosoma
l
storage disease
刊名:Human Patho
l
ogy
出版年:2012
5.
Autopsy findings in
l
ate-onset Pompe disease: A case report and systematic review of the
l
iterature
作者:
L
isa D. Hobson-Webb
;
A
l
an D. Proia
;
Beth
L
.
Thurberg
;
Suhrad Banugaria
;
Sean N. Prater
;
Priya S. Kishnani
关键词:
cm
;
Centimeters
;
CNS
;
Centra
l
nervous system
;
EM
;
E
l
ectron microscopy
;
FDA
;
Food and drug administration
;
FEV1
;
Forced expiratory vo
l
ume in one second
;
FVC
;
Forced vita
l
capacity
;
g
;
Grams
;
GAA
;
Acid ¦Á-g
l
ucosidase
;
HR
L
M
;
High reso
l
ution
l
ight microscopy
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:2012
6.
Ear
l
y Patho
l
ogic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease
作者:
Yin-Hsiu Chien
;
MD
;
PhD
a
;
b
;
Ni-Chung
L
ee
;
MD
a
;
b
;
Pei-Hsin Huang
;
MD
;
PhD
c
;
Wang-Tso
L
ee
;
MD
;
PhD
b
;
Beth
L
.
Thurberg
;
MD
;
PhD
d
;
Wuh-
L
iang Hwu
;
MD
;
PhD
a
;
b
;
hwuw
l
ntu@ntu.edu.tw
刊名:Pediatric Neuro
l
ogy
出版年:2012
7.
L
ater-Onset Pompe Disease: Ear
l
y Detection and Ear
l
y Treatment Initiation Enab
l
ed by Newborn Screening
作者:
Yin-Hsiu Chien
;
Ni-Chung
L
ee
;
Hsiang-Ju Huang
;
Beth
L
.
Thurberg
;
Fuu-Jen Tsai
;
Wuh-
L
iang Hwu
刊名:The Journa
l
of Pediatrics
出版年:2011
8.
Pu
l
monary de
l
ivery of recombinant acid sphingomye
l
inase improves c
l
earance of
l
ysosoma
l
sphingomye
l
in from the
l
ungs of a murine mode
l
of Niemann–Pick disease
作者:
Robin J. Zieg
l
er
;
C
l
aire Brown
;
Christine M. Barbon
;
Anne Marie D’
;
Angona
;
Edward H. Schuchman
;
L
aura Andrews
;
Beth
L
.
Thurberg
;
John M. McPherson
;
Kenneth P. Karey
;
Seng H. Cheng
关键词:
Acid sphingomye
l
inase
;
A
l
veo
l
ar macrophages
;
Enzyme rep
l
acement therapy
;
Niemann–
;
Pick disease
;
Sphingomye
l
in
;
Pu
l
monary de
l
ivery
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:2009
9.
Insights into the Pathophysio
l
ogy of Pompe Disease
作者:
Beth
Thurberg
关键词:
Po
l
yimide
;
Zeo
l
ite
;
Positron annihi
l
ation spectroscopy
;
Pervaporation
;
A
l
coho
l
–
;
water mixture
刊名:C
l
inica
l
Therapeutics
出版年:2008
10.
96. Patho
l
ogy of Fabry nephropathy: Rena
l
fibrosis may begin in ado
l
escence
作者:
Beth
Thurberg
;
He
l
mut Rennke
;
Robert Co
l
vin
;
Steven Dikman
;
Rona
l
d Gordon
;
Michae
l
O’
;
Ca
ll
aghan
关键词:
Pyridox(am)ine 5′
;
-phosphate oxidase
;
PNPO
;
Pyridoxa
l
5′
;
-phosphate
;
P
L
P
;
Neonata
l
convu
l
sions
;
Burst-suppression
;
Vani
ll
actate
;
Hyperg
l
ycinemia
刊名:Mo
l
ecu
l
ar Genetics and Metabo
l
ism
出版年:2008
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