设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
CNKI学位论文(13)
知网期刊论文(7)
在“
Elsevier电子期刊
”中,
命中:
32
条,耗时:0.1369343 秒
在所有数据库中总计命中:
20
条
1.
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhi
b
itor of lysosomal β-galactosidase and a remarka
b
le chaperone for mutations associated with GM1-gangliosidosis and
Morquio
disease
type
B
作者:
Sophie Front
a
;
Anna
B
iela-Banaś
a
;
Patricie
B
urda
b
;
Diana
B
allhausen
c
;
Katsumi Higaki
d
;
Anna Caciotti
e
;
Amelia Morrone
e
;
f
;
Julie Charollais-Thoenig
g
;
Estelle Gallienne
a
;
Sté
;
phane Demotz
g
;
Olivier R. Martin
a
;
olivier.martin@univ-orleans.fr
关键词:
Galactosidase inhi
b
itors
;
GM1-gangliosidosis
;
Morquio
disease
type
B
;
Iminosugars
;
Pharmacological chaperones
刊名:European Journal of Medicinal Chemistry
出版年:2017
2.
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with
Morquio
A
disease
作者:
Ekram M. Fateen
a
;
efateen@yahoo.com
(Professor)
;
Hanan A
b
d El Mawgoud
b
;
hananmoawad@gmail.com
(Assistant Professor)
;
Noura R. Eissa
c
;
nr.eissa@yahoo.com
(Assistant Reseacher)
;
Mona M. I
b
rahim
a
;
monamahmoud60@yahoo.com
(Assistant Professor)
;
Mona S. Aglan
d
;
drmona_aglan@yahoo.com
(Professor)
;
Mona L. Essawi
c
;
mlessawi@yahoo.com
(Professor)
关键词:
MPS IVA
;
Mucopolysaccharidosis
type
4 &ndash
A ;
GALNS
;
N-acetylgalactosamine-6-sulfatase
;
GAGs
;
Glycosaminoglycans
;
NRC
;
National Research Centre
;
MPSs
;
Mucopolysaccharidoses
;
GL
B
1
;
β-Galactosidase
;
KS
;
Keratan Sulfate
;
C6S
;
Chondroitin-6-Sulfate
;
kDa
;
Kilo Dalton
;
HGMD
;
Human Gene Mutation Data
b
ase
;
ERT
;
Enzyme Replacement Therapy
;
LMSDC
;
Lim
b
Malformation and Skeletal Deformities Clinic
;
RFLP
;
Restriction Fragment Length Polymorphism
;
PCR
;
Polymerase Chain Reaction
;
mRNA
;
messenger Ri
b
onucleic
刊名:Gene
出版年:2017
3.
Multi-stakeholder engagement leading to access to treatment for MPS IVA (
Morquio
syndrome
type
A), a model for the ultra rare
disease
community
刊名:Molecular Genetics and Meta
b
olism
出版年:2017
4.
Atypical presentation of mucopolysaccharidosis
type
IVA
作者:
Eric T. Rush
;
erush@unmc.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Mucopolysaccharidosis
;
Morquio
syndrome
;
Whole exome sequencing
;
Glycosaminoglycans
刊名:Molecular Genetics and Meta
b
olism Reports
出版年:2016
5.
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish
Morquio
A patients
作者:
S. Khedhiri
a
;
b
;
khedhirisouhir@yahoo.fr" class="auth_mail
;
L. Chkioua
a
;
b
;
N. Elcioglu
c
;
S. Laradi
d
;
A. Miled
a
;
b
关键词:
Mucopolysaccharidosis
type
IVA
;
GALNS
;
Mutations
;
Polymorphisms
;
Consanguinity
刊名:Pathologie
B
iologie
出版年:Fe
b
ruary, 2014
6.
B
urden of
disease
suffered
b
y patients with
Morquio
syndrome
type
A: results from a patient-reported outcomes survey
作者:
Christian J. Hendriksz
;
Christine Lavery
;
Christina Lampe
;
Lisa
B
ell
;
Mohit Jain
刊名:Molecular Genetics and Meta
b
olism
出版年:Fe
b
ruary, 2014
7.
B
urden of
disease
suffered
b
y caregivers of patients with
Morquio
syndrome
type
A: results from a self-reported outcomes survey
作者:
Christina Lampe
;
Christian J. Hendriksz
;
Christine Lavery
;
Lisa
B
ell
;
Mohit Jain
刊名:Molecular Genetics and Meta
b
olism
出版年:Fe
b
ruary, 2014
8.
Identification of a novel missense mutation in
B
razilian patient with a severe form of mucopolysaccharidosis
type
IVA
作者:
Francyne Ku
b
aski
a
;
b
;
Ana Carolina
B
rusius-Facchin
a
;
b
;
Heloí
;
sa M.C. Palhares
c
;
Marly Aparecida Spadotto
B
alarin
d
;
Marli Viapiana-Camelier
b
;
Regis Guido
b
ono
b
;
Maira Graeff
B
urin
b
;
Ro
b
erto Giugliani
a
;
b
;
e
;
Sandra Leistner-Segal
a
;
b
;
ssegal@hcpa.ufrgs.
b
关键词:
AAS
;
amino acid su
b
stitution
;
ARSA
;
arylsulfatase A or heparan-N-sulfatase
;
ARS
B
;
arylsulfatase
B
or N-acetylgalactosamine-4-sulfatase
;
ARSC
;
arylsulfatase C or acetyl-CoA
;
alpha-glucosaminide acetyltransferase
;
C
;
cysteine
;
°
C ;
degrees Celsius
;
cDNA
刊名:Gene
出版年:2013
9.
Practical and relia
b
le enzyme test for the detection of Mucopolysaccharidosis IVA (
Morquio
Syndrome
type
A) in dried
b
lood samples
作者:
Marli V. Camelier
a
;
b
;
Maira G.
B
urin
a
;
Jurema De Mari
a
;
Taiane A. Vieira
a
;
b
;
Gió
;
rgia Marasca
a
;
Ro
b
erto Giugliani
a
;
b
;
c
;
d
;
e
;
rgiugliani@hcpa.ufrgs.
b
r"" rel=""nofollow
关键词:
Mucopolysaccharidosis IVA
;
Morquio
syndrome
;
Lysosomal storage
disease
s
;
Glycosaminoglycans
;
Dried
b
lood spots
;
Screening
刊名:Clinica Chimica Acta
出版年:2011
10.
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
作者:
C.J. Hendriksz
;
P. Harmatz
;
M.
B
eck
;
S. Jones
;
T. Wood
;
R. Lachman
;
C.G. Gravance
;
T. Orii
;
S. Tomatsu
关键词:
CDC
;
Centers for
Disease
Control and Prevention
;
CPAP
;
Continuous positive airway pressure
;
D
B
S
;
Dried
b
lood spots
;
GALNS
;
N-acetylgalactosamine-6-sulfate sulfatase
刊名:Molecular Genetics and Meta
b
olism
出版年:2013
1
2
3
4
按检索点细分(32)
题名(7)
关键词(2)
文摘(22)
按出版年细分(32)
2027年及以后(3)
2017年(3)
2016年(1)
2013年(4)
2012年(6)
2011年(2)
2010年(1)
2009年(1)
2008年(1)
2007年(1)
2006年(1)
2005年(1)
2004年(1)
2003年(1)
2002年(1)
2000年及以前(4)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.