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SpringerLink电子期刊(30)
NATURE电子期刊(1)
Elsevier电子期刊(86)
ACS电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
86
条,耗时:小于0.01 秒
在所有数据库中总计命中:
120
条
1.
Four novel mutations in the N-
acetylgalactosamin
e-6-sulfate
sulfatase
gene among Egyptian patients with Morquio A disease
作者:
Ekram M. Fateen
a
;
efateen@yahoo.com
(Professor)
;
Hanan Abd El Mawgoud
b
;
hananmoawad@gmail.com
(Assistant Professor)
;
Noura R. Eissa
c
;
nr.eissa@yahoo.com
(Assistant Reseacher)
;
Mona M. Ibrahim
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-
acetylgalactosamin
e-6-
sulfatase
;
GAGs
;
Glycosaminoglycans
;
NRC
;
National Research Centre
;
MPSs
;
Mucopolysaccharidoses
;
GLB1
;
β-Galactosidase
;
KS
;
Keratan Sulfate
;
C6S
;
Chondroitin-6-Sulfate
;
kDa
;
Kilo Dalton
;
HGMD
;
Human Gene Mutation Database
;
ERT
;
Enzyme Replacement Therapy
;
LMSDC
;
Limb Malformation and Skeletal Deformities Clinic
;
RFLP
;
Restriction Fragment Length Polymorphism
;
PCR
;
Polymerase Chain Reaction
;
mRNA
;
messenger Ribonucleic
刊名:Gene
出版年:2017
2.
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-
acetylgalactosamin
e 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
3.
Antibodies that neutralize cellular uptake of elosulfase alfa are not associated with reduced efficacy or pharmacodynamic effect in individuals with Morquio A syndrome
作者:
Andrew C. Melton
;
AMelton@bmrn.com
;
Russell K. Soon Jr.
;
Troy Tompkins
;
Brian Long
;
Becky Schweighardt
;
Yulan Qi
;
Catherine Vitelli
;
Anil Bagri
;
Celeste Decker
;
Charles A. O'Neill
;
Stephen J. Zoog
;
Lynne Jesaitis
关键词:
TAb
;
total antibody
;
NAb
;
neutralizing antibody
;
LSD
;
lysosomal storage diseases
;
GAGs
;
glycosaminoglycans
;
ERTs
;
enzyme replacement therapies
;
rhGALNS
;
recombinant human N-
acetylgalactosamin
e-6-
sulfatase
;
6MWT
;
six minute walk test
;
3MSC
;
three minute stair climb
;
MVV
;
maximum voluntary ventilation
;
uKS
;
urine keratan sulfate
;
M6P
;
mannose-6-phosphate
;
CI-M6PR
;
cation-independent mannose-6-phosphate receptor
;
TQC
;
titer quality control
;
LQC
;
low quality control
;
HQC
;
high quality control
;
NPS
刊名:Journal of Immunological Methods
出版年:2017
4.
Human recombinant N-
acetylgalactosamin
e-6-sulfate
sulfatase
(GALNS) produced in a glycoengineered Escherichia coli strain
作者:
Carlos J Almeciga-DIaz
a
;
Luisa N Pimentel-Vera
a
;
Alexander Rodriguez-Lopez
a
;
Angela Espejo-Mojica
a
;
Aura M Ramirez
a
;
Carolina Cardona
a
;
Luis H Reyes
a
;
Matthew P DeLisa
b
;
Oscar F Sanchez
c
刊名:Molecular Genetics and Metabolism
出版年:2017
5.
Cell uptake evaluation of human recombinant N-
acetylgalactosamin
e-6-sulfate
sulfatase
(GALNS) produced in Pichia pastoris
刊名:Molecular Genetics and Metabolism
出版年:2017
6.
Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-
acetylgalactosamin
e
4
-
sulfatase
after 6 months of therapy in cats using different IV infusion durations
作者:
Therese Ruane
a
;
Mark Haskins
a
;
Alphonsus Cheng
d
;
Ping Wang
a
;
Gustavo Aguirre
b
;
Van W. (Rafe) Knox IV
c
;
Yulan Qi
d
;
Troy Tompkins
d
;
Charles A. O'Neill
d
;
CO'Neill@bmrn.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Mucopolysaccharidosis VI
;
Maroteaux&ndash
;
Lamy syndrome
;
Galsulfase
;
Recombinant human N-
acetylgalactosamin
e
4
-
sulfatase
;
Enzyme replacement therapy
;
Infusion duration
刊名:Molecular Genetics and Metabolism
出版年:2016
7.
Fluorimetric assays for N-
acetylgalactosamin
e-6-
sulfatase
and aryl
sulfatase
B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
作者:
Arun Babu Kumar
a
;
Zdenek Spacil
a
;
Farideh Ghomashchi
a
;
Sophia Masi
a
;
Tomomi Sumida
d
;
Makoto Ito
d
;
Frantisek Turecek
a
;
C. Ronald Scott
b
;
Michael H. Gelb
a
;
c
;
gelb@chem.washington.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
ARSB
;
aryl
sulfatase
B
;
DBS
;
dried blood spots on newborn screening cards
;
GALNS
;
N-
acetylgalactosamin
e-6-
sulfatase
;
4
MU
;
4
-methyl-umbelliferyl
;
4
MU-Gal-6-S
;
β-
4
MU glycoside of galactose-6-sulfate
;
4
MU-GalNAc-
4
/6-S
;
β-
4
MU glycoside of N-
acetylgalactosamin
e-
4
/6-sulfate
;
MPS IVA/VI
;
mucopolysaccharidosis IVA/VI
;
NBS
;
newborn screening
;
β-NGA
;
β-N-
acetylgalactosamin
idase
刊名:Clinica Chimica Acta
出版年:2015
8.
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
作者:
Hsiang-Yu Lin
a
;
b
;
c
;
d
;
e
;
Chih-Kuang Chuang
c
;
f
;
g
;
Chung-Hsing Wang
h
;
Yin-Hsiu Chien
i
;
Yu-Mei Wang
j
;
Fuu-Jen Tsai
h
;
Yen-Yin Chou
k
;
Shio Jean Lin
l
;
Hui-Ping Pan
m
;
Dau-Ming Niu
e
;
n
;
Wuh-Liang Hwu
i
;
Yu-Yuan Ke
o
;
Shuan-Pei Lin
a
;
b
;
c
;
p
;
4
535lin@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
MPS
;
mucopolysaccharidosis
;
ASB
;
N-
acetylgalactosamin
e
4
-
sulfatase
;
GAG
;
glycosaminoglycan
;
ERT
;
enzyme replacement therapy
;
Galsulfase
;
recombinant human N-
acetylgalactosamin
e
4
-
sulfatase
;
Z score
;
standard deviation score
;
6MWT
;
6-minute walk test
;
3MSCT
;
3-minute stair climb test
;
FVC
;
Forced vital capacity
;
FEV1
;
forced expiratory volume in 1
s ;
E/A
;
ratio between early and late (atrial) ventricular filling velocity
;
LVMI
;
left ventricular mass index
;
IVSd
;
interventricular septum thick
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
9.
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
作者:
Christian J. Hendriksz
a
;
chris.hendriksz@srft.nhs.uk" class="auth_mail" title="E-mail the corresponding author
;
Rossella Parini
b
;
Moeenaldeen D. AlSayed
c
;
Julian Raiman
d
;
Roberto Giugliani
e
;
Martha L. Solano Villarreal
f
;
John J. Mitchell
g
;
Barbara K. Burton
h
;
Norberto Guelbert
i
;
Fiona Stewart
j
;
Derralynn A. Hughes
k
;
Kenneth I. Berger
l
;
Peter Slasor
m
;
Robert Matousek
m
;
Elaina Jurecki
m
;
Adam J. Shaywitz
m
;
Paul R. Harmatz
n
关键词:
3MSCT
;
3-minute stair climb test
;
6MWT
;
6-minute walk test
;
AE
;
adverse event
;
ERT
;
enzyme replacement therapy
;
GALNS
;
enzyme N-
acetylgalactosamin
e-6-
sulfatase
;
IAR
;
infusion-associated reaction
;
IgE
;
immunoglobulin E
;
ITT
;
intent-to-treat
;
KS
;
keratan sulfate
;
MPP
;
modified per-protocol
;
MorCAP
;
Morquio A Clinical Assessment Program
;
NAb
;
neutralizing antibody
;
PBO
;
placebo
;
QOW
;
every other week
;
QW
;
once weekly
;
SAE
;
serious adverse event
;
TAb
;
total antibody
;
uKS
;
urine keratan sulfate
刊名:Molecular Genetics and Metabolism
出版年:2016
10.
Obstructive airway in Morquio A syndrome, the past, the present and the future
作者:
Shunji Tomatsu
a
;
1
;
stomatsu@nemours.org" class="auth_mail" title="E-mail the corresponding author
;
Lauren W. Averill
a
;
1
;
Kazuki Sawamoto
a
;
William G. Mackenzie
a
;
Michael B. Bober
a
;
Christian Pizarro
a
;
Christopher J. Goff
a
;
Li Xie
a
;
Tadao Orii
b
;
Mary Theroux
a
;
2
;
Mary.Theroux@nemours.org" class="auth_mail" title="E-mail the corresponding author
关键词:
C6S
;
chondroitin-6-sulfate
;
ECM
;
extracellular matrix
;
ERT
;
enzyme replacement therapy
;
GALNS
;
N-
acetylgalactosamin
e-6-sulfate
sulfatase
;
KS
;
keratan sulfate
;
MR images
;
Magnetic resonance images
;
MRI
;
Magnetic resonance imaging
刊名:Molecular Genetics and Metabolism
出版年:2016
1
2
3
4
5
6
7
8
9
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