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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(22)
NATURE电子期刊(1)
Elsevier电子期刊(40)
在“
Elsevier电子期刊
”中,
命中:
40
条,耗时:0.0640021 秒
在所有数据库中总计命中:
64
条
1.
Haematopoietic stem cell transplantation alongside enzyme replacement therapy in infantile onset lysosomal acid lipase deficiency (LALD,
Wolman
disease
)
作者:
Arunabha Ghosh
a
;
Su Han Lum
b
;
Simon Jones
a
;
Robert F. Wynn
b
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (
Wolman
disease
)
刊名:Molecular Genetics and Metabolism
出版年:2017
3.
Wolman
disease
in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
作者:
Solaf Elsayed
a
;
elsayed683@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Ezzat Elsobky
a
;
Azza Tantawy
a
;
Eman Ragab
a
;
Marine Gil
b
;
Nathalie Lambert
b
;
Geneviè
;
ve de Saint Basile
b
;
c
关键词:
Wolman
disease
;
Familial hemophagocytic lymphohistiocytosis
;
Hepatomegaly
;
Splenomegaly
;
Fever
刊名:Egyptian Journal of Medical Human Genetics
出版年:2016
4.
B- and T-cell immune suppression in a Native American infant with
Wolman
disease
作者:
Daniel Julien
a
;
Duane W. Wong
a
;
Tamir Miloh
b
;
Daxa Clarke
a
;
Kyrieckos Aleck
a
;
Kristin Lindstrom
a
刊名:Molecular Genetics and Metabolism
出版年:2016
5.
Development of a selective activity-based probe for glycosylated LIPA
作者:
Adam G. Schwaid
a
;
aschwaid@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Wanida Ruangsiriluk
b
;
Allan R. Reyes
b
;
Shawn Cabral
c
;
Francis Rajamohan
d
;
Meihua Tu
a
;
Jessica Ward
b
;
Philip A. Carpino
a
关键词:
Lysosomal acid lipase
;
Activity based protein profiling
;
Serine hydrolase
;
Glycosylation
;
LAL
;
LIPA
刊名:Bioorganic & Medicinal Chemistry Letters
出版年:2016
6.
Extended use of a selective inhibitor of acid lipase for the diagnosis of
Wolman
disease
and cholesteryl ester storage
disease
作者:
G. Civallero
a
;
b
;
gecivallero@yahoo.com" class="auth_mail
;
J. De Mari
a
;
C. Bittar
c
;
M. Burin
a
;
R. Giugliani
a
;
b
;
c
关键词:
LSD
;
lysosomal storage
disease
;
WD
;
Wolman
disease
;
CESD
;
cholesteryl ester storage
disease
;
LAL
;
lysosomal acid lipase
;
DBFP
;
dried-blood filter paper
刊名:Gene
出版年:10 April, 2014
7.
A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage
disease
and
Wolman
disease
作者:
Takenori Dairaku
;
Takeo Iwamoto
;
Minami Nishimura
;
Masahiro Endo
;
Toya Ohashi
;
Yoshikatu Eto
关键词:
4-MU
;
4-methylumbelliferone
;
LAL
;
lysosomal acid lipase
;
DBS
;
dried blood spots
;
LSD
;
lysosomal storage disorders
;
CESD
;
cholesteryl ester storage
disease
;
WD
;
Wolman
disease
;
4-MUP
;
4-methylumbelliferyl-palmitate
;
FWHM
;
full width at half maximum
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
8.
Reversal of advanced
disease
in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency
disease
作者:
Ying Sun
a
;
b
;
ying.sun@cchmc.org" class="auth_mail
;
You-Hai Xu
a
;
b
;
Hong Du
c
;
Brian Quinn
a
;
Benjamin Liou
a
;
Lori Stanton
a
;
Venette Inskeep
a
;
Huimin Ran
a
;
Phillip Jakubowitz
a
;
d
;
Nicholas Grilliot
a
;
d
;
Gregory A. Grabowski
a
;
b
;
e
关键词:
LAL
;
lysosomal acid lipase
;
TG
;
triglycerides
;
CE
;
cholesteryl esters
;
WD
;
Wolman
disease
;
CESD
;
cholesterol ester storage
disease
;
ET
;
enzyme therapy
;
rhLAL
;
recombinant human LAL
;
4-MUO
;
4-methylumbelliferyloleate
;
ORO
;
Oil Red-O
刊名:Molecular Genetics and Metabolism
出版年:July 2014
9.
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with
Wolman
disease
due to graft failure and hepatic complications
作者:
Asaf Yanir
a
;
ayanir@hadassah.org.il
;
Mahmud Abed Allatif
b
;
Michael Weintraub
a
;
Polina Stepensky
a
关键词:
Wolman
;
HSCT
;
Storage
disease
刊名:Molecular Genetics and Metabolism
出版年:2013
10.
Structural bases of
Wolman
disease
and cholesteryl ester storage
disease
作者:
Seiji Saito
a
;
1
;
Kazuki Ohno
b
;
1
;
2
;
Toshihiro Suzuki
c
;
Hitoshi Sakuraba
c
;
d
;
sakuraba@my-pharm.ac.jp
关键词:
Wolman
disease
;
Cholesteryl ester storage
disease
;
Lysosomal acid lipase
;
Structure
刊名:Molecular Genetics and Metabolism
出版年:2012
1
2
3
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