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Wiley电子期刊(3)
SpringerLink电子期刊(29)
NATURE电子期刊(5)
Elsevier电子期刊(38)
在“
Elsevier电子期刊
”中,
命中:
38
条,耗时:小于0.01 秒
在所有数据库中总计命中:
75
条
1.
Identification of relevant clinical niches in rare inherited metabolic diseases:
Niemann
-Pick disease type C as a model
作者:
Chris J. Hendriksz
a
;
b
;
Stefan
A. Kolb
c
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by
Niemann
-Pick Disease due to NPC1 and SMPD1 Mutations
作者:
Milena Romanello
a
;
romanello.milena@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Stefan
ia Zampieri
a
;
zampieri.
stefan
ia@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Nadia Bortolotti
b
;
bortolotti.nadia@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Laura Deroma
a
;
deroma.laura@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Annalisa Sechi
a
;
sechi.annalisa@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Agata Fiumara
c
;
agatafiumara@yahoo.it" class="auth_mail" title="E-mail the corresponding author
;
Rossella Parini
d
;
rossella.parini@unimib.it" class="auth_mail" title="E-mail the corresponding author
;
Barbara Borroni
e
;
barbara.borroni@unibs.it" class="auth_mail" title="E-mail the corresponding author
;
Francesco Brancati
f
;
f.brancati@igenetica.com" class="auth_mail" title="E-mail the corresponding author
;
Amalia Bruni
g
;
bruni@arn.it" class="auth_mail" title="E-mail the corresponding author
;
Cinzia V. Russo
h
;
cinziavaleria@hotmail.it" class="auth_mail" title="E-mail the corresponding author
;
Andrea Bordugo
i
;
abordugo@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Bruno Bembi
a
;
bembi.bruno@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
;
Andrea Dardis
a
;
dardis.andrea@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Oxysterols
;
Niemann
-Pick
;
Liquid chromatography-tandem&ndash
;
mass spectrometry
;
Variant biochemical phenotype
刊名:Clinica Chimica Acta
出版年:2016
3.
Diagnostic tests for
Niemann
-Pick disease type C (NP-C): A critical review
作者:
Marie T. Vanier
a
;
b
;
marie-t.vanier@inserm.fr" class="auth_mail" title="E-mail the corresponding author
;
vaniermtv@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Paul Gissen
c
;
d
;
p.gissen@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Peter Bauer
e
;
peter.bauer@med.uni-tuebingen.de" class="auth_mail" title="E-mail the corresponding author
;
Maria J. Coll
f
;
g
;
mjcoll@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author
;
Alberto Burlina
h
;
alberto.burlina@unipd.it" class="auth_mail" title="E-mail the corresponding author
;
Christian J. Hendriksz
i
;
j
;
chris.hendriksz@srft.nhs.uk" class="auth_mail" title="E-mail the corresponding author
;
Philippe Latour
k
;
philippe.latour@chu-lyon.fr" class="auth_mail" title="E-mail the corresponding author
;
Cyril Goizet
l
;
m
;
cyril.goizet@chu-bordeaux.fr" class="auth_mail" title="E-mail the corresponding author
;
Richard W.D. Welford
n
;
richard.welford@actelion.com" class="auth_mail" title="E-mail the corresponding author
;
Thorsten Marquardt
o
;
thorsten.marquardt@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author
;
Stefan
A. Kolb
n
;
stefan
.kolb@actelion.com" class="auth_mail" title="E-mail the corresponding author
关键词:
7-KC
;
7-Ketocholesterol
;
ACAT
;
Acyl-CoA
;
cholesterol acyltransferase
;
ASMDs
;
Acid sphingomyelinase deficiencies
;
BMP
;
Bis(monoacylglycero)phosphate
;
C-triol
;
Cholestane-3β
;
5α
;
6β-triol
;
EOA
;
Early-onset ataxia
;
GC/MS
;
Gas chromatography&ndash
;
mass spectrometry
;
HPLC
;
High performance liquid chromatography
;
L
;
Lysosome
;
LC-MS/MS
;
Liquid chromatography-tandem mass spectrometry
;
LDL
;
Low density lipoprotein
;
LE
;
Late endosome
;
LPDS
;
Lipoprotein-deficient serum
;
LSDs
;
Lysosomal storage disorders
;
lyso
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
Population-based resistance of Mycobacterium tuberculosis isolates to pyrazinamide and fluoroquinolones: results from a multicountry surveillance project
作者:
Dr Matteo Zignol
;
MD
a
;
zignolm@who.int" class="auth_mail" title="E-mail the corresponding author
;
Anna S Dean
;
PhD
a
;
Natavan Alikhanova
;
MD
b
;
Sö
;
nke Andres
;
PhD
c
;
Andrea Maurizio Cabibbe
;
BA
d
;
Daniela Maria Cirillo
;
MD
d
;
Andrei Dadu
;
MD
e
;
Andries Dreyer
;
MD
f
;
Michè
;
le Driesen
;
MSc
g
;
Christopher Gilpin
;
PhD
a
;
Rumina Hasan
;
MD
h
;
Zahra Hasan
;
PhD
h
;
Sven Hoffner
;
PhD
i
;
j
;
Ashaque Husain
;
MD
k
;
Alamdar Hussain
;
BA
l
;
Nazir Ismail
;
MD
f
;
m
;
Mostofa Kamal
;
MD
n
;
Mikael Mansjö
;
BA
o
;
Lindiwe Mvusi
;
MD
p
;
Stefan
Niemann
;
PhD
c
;
Shaheed V Omar
;
PhD
f
;
Ejaz Qadeer
;
MD
q
;
Leen Rigouts
;
PhD
g
;
r
;
Sabine Ruesch-Gerdes
;
PhD
c
;
Marco Schito
;
PhD
s
;
Mehriban Seyfaddinova
;
BA
b
;
Alena Skrahina
;
MD
t
;
Sabira Tahseen
;
MD
l
;
William A Wells
;
PhD
u
;
Ya Diul Mukadi
;
MD
u
;
Michael Kimerling
;
MD
v
;
Katherine Floyd
;
PhD
a
;
Karin Weyer
;
PhD
a
;
Mario C Raviglione
;
MD
a
刊名:The Lancet Infectious Diseases
出版年:2016
5.
Whole-genome sequencing for prediction of Mycobacterium tuberculosis drug susceptibility and resistance: a retrospective cohort study
作者:
Dr Timothy M Walker
;
MRCP
a
;
*
;
timothy.walker@ndm.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Thomas A Kohl
;
PhD
b
;
*
;
Shaheed V Omar
;
MSc
c
;
*
;
Jessica Hedge
;
PhD
a
;
*
;
Carlos Del Ojo Elias
;
MSc
a
;
Phelim Bradley
;
MPhil
d
;
Zamin Iqbal
;
DPhil
d
;
Silke Feuerriegel
;
PhD
b
;
e
;
Katherine E Niehaus
;
MS
f
;
Daniel J Wilson
;
DPhil
a
;
David A Clifton
;
DPhil
f
;
Georgia Kapatai
;
PhD
g
;
Camilla L C Ip
;
PhD
d
;
Rory Bowden
;
PhD
d
;
Francis A Drobniewski
;
PhD
h
;
i
;
Caroline Allix-Bé
;
guec
;
PhD
j
;
Cyril Gaudin
;
PhD
j
;
Julian Parkhill
;
PhD
k
;
Roland Diel
;
PhD
l
;
Philip Supply
;
PhD
j
;
m
;
n
;
Derrick W Crook
;
FRCPath
a
;
o
;
E Grace Smith
;
FRCPath
p
;
A Sarah Walker
;
PhD
a
;
o
;
Nazir Ismail
;
FCPath
c
;
q
;
&dagger
;
;
Stefan
Niemann
;
PhD
b
;
e
;
&dagger
;
;
Tim E A Peto
;
FRCP
a
;
o
;
&dagger
;
;
the Modernizing Medical Microbiology (MMM) Informatics Group
&Dagger
;
刊名:The Lancet Infectious Diseases
出版年:2015
6.
A silent mutation of
Niemann
-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias
作者:
Graziana Lupattelli
;
MD
a
;
glupa@unipg.it
;
Livia Pisciotta
;
MD
b
;
Stefan
o De Vuono
;
MD
a
;
Donatella Siepi
;
BSc
a
;
Antonella Bellocchio
;
BSc
b
;
Francesco Melis
;
BSc
a
;
Stefan
o Bertolini
;
MD
b
;
Matteo Pirro
;
MD
a
;
Elmo Mannarino
;
MD
a
关键词:
Apolipoprotein (APO) E4
;
Campesterol
;
NPC1L1
;
Hyperlipidemias
;
Sitosterol
刊名:Journal of Clinical Lipidology
出版年:2013
7.
Assessment of drug candidates for broad-spectrum antiviral therapy targeting cellular pyrimidine biosynthesis
作者:
Manfred Marschall
;
Ina
Niemann
;
Karin Kosulin
;
Anna Bootz
;
Sabrina Wagner
;
Thomas Dobner
;
Thomas Herz
;
Bernd Kramer
;
Johann Leban
;
Daniel Vitt
;
Thomas Stamminger
;
Corina Hutterer
;
Stefan
Strobl
关键词:
4SCan drug design
;
Antiviral drug candidate
;
Target dihydroorotate dehydrogenase
;
Pyrimidine biosynthesis
;
Broad-spectrum antiviral therapy
;
Cytomegaloviruses and adenoviruses
刊名:Antiviral Research
出版年:December, 2013
8.
A Helical RGD Motif Promoting Cell Adhesion: Crystal Structures of the Helicobacter pylori Type IV Secretion System Pilus Protein CagL
作者:
Stephan Barden
;
Stefan
ie Lange
;
Nicole Tegtmeyer
;
Jens Conradi
;
Norbert Sewald
;
Steffen Backert
;
Hartmut聽H.
Niemann
刊名:Structure
出版年:5 November, 2013
9.
Using Simple Imaging Markers to Predict Prognosis in Patients With Aortic Valve Stenosis and Unacceptable High Risk for Operation
作者:
Sebastian Herrmann
;
Bart Bijnens
;
Stefan
St枚rk
;
Markus
Niemann
;
Kai Hu
;
Dan Liu
;
Robin Kettner
;
Daniel Rau
;
J枚rg Strotmann
;
Wolfram Voelker
;
Georg Ertl
;
Frank Weidemann
刊名:The American Journal of Cardiology
出版年:1 December, 2013
10.
Combining sedimentological, trace metal (Mn, Mo) and molecular evidence for reconstructing past water-column redox conditions: The example of meromictic Lake Cadagno (Swiss Alps)
作者:
Stefan
ie B. Wirth
;
Adrian Gilli
;
Helge
Niemann
;
Tais W. Dahl
;
Damiana Ravasi
;
Nadja Sax
;
Yvonne Hamann
;
Raffaele Peduzzi
;
S
;
ro Peduzzi
;
Mauro Tonolla
;
Moritz F. Lehmann
;
Flavio S. Anselmetti
刊名:Geochimica et Cosmochimica Acta
出版年:2013
1
2
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