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Wiley电子期刊(2)
SpringerLink电子期刊(235)
ACS电子期刊(2)
Springer电子图书(2)
Elsevier电子期刊(232)
在“
Elsevier电子期刊
”中,
命中:
232
条,耗时:0.0189909 秒
在所有数据库中总计命中:
473
条
1.
Clinical characteristics of patients with lysosomal
diseases
in a Spanish cohort of 499 adult patients with
inborn
errors of metabolism from university hospitals
作者:
Jordi Pé
;
rez-Ló
;
pez
a
;
Leticia Ceberio-Hualde
b
;
José
;
Salvador Garcí
;
a-Morillo
c
;
Josep Maria Grau-Junyent
d
;
Alvaro Hermida-Ameijeiras
e
;
Mó
;
nica Ló
;
pez-Rodrí
;
guez
f
;
José
;
Cé
;
sar Milisenda
d
;
Marc Moltó
;
-Abad
a
;
Montse Morales-Conejo
g
;
Juan José
;
Nava Mateos
h
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Pharmacotherapy of
inborn
errors of metabolism illustrating challenges in orphan
diseases
作者:
Anibh M. Das
;
das.anibh@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Enzyme replacement therapy
;
Diet
;
Inborn
errors of metabolism
;
Orphan
diseases
;
Pharmacotherapy
;
Scavenger
刊名:Journal of Pharmacological and Toxicological Methods
出版年:2016
3.
Neurocognitive clinical outcome assessments for
inborn
errors of metabolism and other rare conditions
作者:
Elsa Shapiro
a
;
b
;
shapi004@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
Jessica Bernstein
c
;
jessica.bernstein@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Heather R. Adams
d
;
Heather_Adams@URMC.Rochester.edu" class="auth_mail" title="E-mail the corresponding author
;
Ann J. Barbier
e
;
1
;
annjbarbier@aol.com" class="auth_mail" title="E-mail the corresponding author
;
Teresa Buracchio
c
;
teresa.buracchio@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Peter Como
f
;
peter.como@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Kathleen A. Delaney
b
;
a
;
kate.delaney@shapiroanddelaney.com" class="auth_mail" title="E-mail the corresponding author
;
Florian Eichler
g
;
feichler@partners.org" class="auth_mail" title="E-mail the corresponding author
;
Jonathan C. Goldsmith
c
;
jonathan.goldsmith@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Melissa Hogan
h
;
melissa@savingcase.com" class="auth_mail" title="E-mail the corresponding author
;
Sarrit Kovacs
c
;
sarrit.kovacs@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Jonathan W. Mink
i
;
Jonathan_Mink@URMC.Rochester.edu" class="auth_mail" title="E-mail the corresponding author
;
Joanne Odenkirchen
j
;
jo21x@nih.gov" class="auth_mail" title="E-mail the corresponding author
;
Melissa A. Parisi
k
;
parisima@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author
;
Alison Skrinar
l
;
ASkrinar@ultragenyx.com" class="auth_mail" title="E-mail the corresponding author
;
Susan E. Waisbren
m
;
Susan.Waisbren@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
;
Andrew E. Mulberg
c
;
andrew.mulberg@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
关键词:
Inborn
errors
;
Neurocognitive
;
Clinical outcome assessment
;
Natural history studies
;
Rare
diseases
;
Drug development
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
The Italian pilot external quality assessment program for cystic fibrosis sweat test
作者:
Marco Salvatore
a
;
marco.salvatore@iss.it" class="auth_mail" title="E-mail the corresponding author
;
Giovanna Floridia
a
;
Annalisa Amato
a
;
Federica Censi
a
;
Claudio Carta
a
;
Maria Chiara de Stefano
a
;
Gianluca Ferrari
a
;
Fabrizio Tosto
a
;
Ettore Capoluongo
b
;
Ubaldo Caruso
c
;
Giuseppe Castaldo
d
;
e
;
Natalia Cirilli
f
;
Carlo Corbetta
g
;
Rita Padoan
h
;
Valeria Raia
i
;
Domenica Taruscio
a
关键词:
EQA
;
external quality assessment
;
ST
;
sweat test
;
CF
;
cystic fibrosis
;
CFTR
;
cystic fibrosis transmembrane regulator
;
ISS
;
Istituto Superiore di Sanità
;
CNMR
;
National Centre for Rare
Diseases
;
SIFC
;
Italian Cystic Fibrosis Society
;
SIMMESN
;
Italian Society for the Study of
Inborn
Metabolic
Diseases
and Newborn Screening
;
SIBiOC
;
Italian Society of Clinical Biochemistry and Clinical Molecular Biology
;
ID
;
Identification Number
;
SLS
;
sweat like samples
;
NA
;
not assessable
刊名:Clinical Biochemistry
出版年:2016
5.
Immune response to enzyme replacement therapies in lysosomal storage
diseases
and the role of immune tolerance induction
作者:
Priya S. Kishnani
a
;
priya.kishnani@duke.edu" class="auth_mail" title="E-mail the corresponding author
;
Patricia I. Dickson
b
;
pdickson@labiomed.org" class="auth_mail" title="E-mail the corresponding author
;
Laurie Muldowney
c
;
laurie.muldowney@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Jessica J. Lee
c
;
jessica.j.lee@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Amy Rosenberg
d
;
amy.rosenberg@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Rekha Abichandani
e
;
rabichan@shire.com" class="auth_mail" title="E-mail the corresponding author
;
Jeffrey A. Bluestone
f
;
jeff.bluestone@ucsf.edu" class="auth_mail" title="E-mail the corresponding author
;
Barbara K. Burton
g
;
bburton@luriechildrens.org" class="auth_mail" title="E-mail the corresponding author
;
Maureen Dewey
c
;
maureen.dewey@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Alexandra Freitas
h
;
afreitas@rare
diseases
.org" class="auth_mail" title="E-mail the corresponding author
;
Derek Gavin
h
;
dgavin@rare
diseases
.org" class="auth_mail" title="E-mail the corresponding author
;
Donna Griebel
c
;
donna.griebel@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Melissa Hogan
i
;
melissa@savingcase.com" class="auth_mail" title="E-mail the corresponding author
;
Stephen Holland
j
;
steve.holland@thomsonreuters.com" class="auth_mail" title="E-mail the corresponding author
;
Pranoot Tanpaiboon
k
;
ptanpaib@childrensnational.org" class="auth_mail" title="E-mail the corresponding author
;
Laurence A. Turka
l
;
lturka@partners.org" class="auth_mail" title="E-mail the corresponding author
;
Jeanine J. Utz
m
;
utz002@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
Yow-Ming Wang
n
;
yowming.wang@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
;
Chester B. Whitley
m
;
whitley@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
Zoheb B. Kazi
a
;
zoheb.kazi@dm.duke.edu" class="auth_mail" title="E-mail the corresponding author
;
Anne R. Pariser
o
;
anne.pariser@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author
关键词:
Ab
;
antibody
;
ADAs
;
anti-drug antibodies
;
Ag
;
antigen
;
BiPAP
;
bilevel positive airway pressure
;
CDER
;
Center for Drug Evaluation and Research
;
CNS
;
central nervous system
;
CRIM
;
cross-reactive immunologic material
;
DGIEP
;
Division of Gastroenterology and
Inborn
Errors of Metabolism
;
ERT
;
enzyme replacement therapy
;
FcR
;
Fc receptor
;
FDA
;
Food and Drug Administration
;
GAA
;
acid alpha glucosidase
;
GAG
;
glycosaminoglycans
;
HLA
;
human leukocyte antigen
;
HSAT
;
high and sustained anti-rhGAA IgG antibo
刊名:Molecular Genetics and Metabolism
出版年:2016
6.
Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future
作者:
Clara D.M. van Karnebeek
;
MD
;
PhD
a
;
cvankarnebeek@cw.bc.ca
;
Kristin Bowden
;
PhD
b
;
Elizabeth Berry-Kravis
;
MD
;
PhD
c
;
d
;
e
;
elizabeth_m_berry-kravis@rush.edu
关键词:
neurogenetic disorders
;
therapy
;
genetic
diseases
;
fragile X syndrome
;
developmental disorders
刊名:Pediatric Neurology
出版年:2016
7.
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders
作者:
Heba S. Abd-Elkhalek
;
Radwa Gamal
;
Osama K. Zaki
;
Solaf M. Elsayed
;
elsayed683@yahoo.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Consanguinity
;
Inborn
errors
;
Neurometabolic
;
Maple syrup
;
Tay&ndash
;
Sachs disease
刊名:Egyptian Journal of Medical Human Genetics
出版年:2016
8.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
作者:
Thomas Opladen
a
;
Thomas.opladen@med.uni-heidelberg.de
;
Elisenda Cortè
;
s-Saladelafont
b
;
Mario Mastrangelo
c
;
Gabriella Horvath
d
;
Roser Pons
e
;
Eduardo Lopez-Laso
f
;
Joaquí
;
n A. Ferná
;
ndez-Ramos
f
;
Tomas Honzik
g
;
Toni Pearson
h
;
Jennifer Friedman
i
;
Sabine Scholl-Bü
;
rgi
j
;
Tessa Wassenberg
k
;
Sabine Jung-Klawitter
a
;
Oya Kuseyri
a
;
Kathrin Jeltsch
a
;
Manju A. Kurian
l
;
À
;
ngels Garcia-Cazorla
b
;
on behalf of the International Working Group on Neurotransmitter related disorders (iNTD)
关键词:
AADC
;
aromatic l-amino acid decarboxylase
;
AR/ADGTPCH
;
autosomal recessive/dominant GTP-cyclohydrolase deficiency
;
BH4
;
tetrahydrobiopterin
;
DAT
;
dopamine transporter
;
Dß
H ;
dopamine β-hydroxylase
;
DHFR
;
dihydrofolate reductase deficiency
;
DHPR
;
dihydropteridine reductase
;
FOLR1
;
folate receptor alpha
;
GABA
;
gamma aminobutyric acid
;
MAOA
;
monoamine oxidase A
;
5-MTHF
;
5-methyltetrahydrofolate
;
NKH
;
nonketotic hyperglycinemia
;
NOS
;
nitric oxide synthase
;
PAH
;
phenylalanine hydroxylase
;
3-PGDH
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
9.
Guidelines for incorporating scientific knowledge and practice on rare
diseases
into higher education: neuronal ceroid lipofuscinoses as a model disorder
作者:
Iné
;
s Adriana Cismondi
a
;
b
;
ines.adriana.cismondi@unc.edu.ar" class="auth_mail" title="E-mail the corresponding author
;
icismon@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Romina Kohan
a
;
b
;
kohanromina@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Heather Adams
d
;
heather_adams@urmc.rochester.edu" class="auth_mail" title="E-mail the corresponding author
;
Mike Bond
e
;
michael.bond@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Rachel Brown
e
;
rachel.brown.10@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Jonathan D. Cooper
f
;
jon.cooper@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Perla K. de Hidalgo
b
;
perlakdehidalgo@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Sophia-Martha Kleine Holthaus
e
;
h
;
s.kleine.holthaus.11@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Sara E. Mole
e
;
s.mole@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Julia Mugnaini
a
;
juliamugnaini@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Ana Marí
;
a Oller de Ramirez
a
;
ramirezoller@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Favio Pesaola
a
;
c
;
favio.pesaola@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Gisela Rautenberg
a
;
gisela.rautenberg@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Frances M. Platt
g
;
frances.platt@pharm.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Iné
;
s Noher de Halac
a
;
c
;
rhalac@arnet.com.ar" class="auth_mail" title="E-mail the corresponding author
关键词:
CEMECO
;
Centro de Estudio de las Metabolopatí
;
as Congé
;
nitas-Center for Research on
Inborn
Errors of Metabolism in Có
;
rdoba-Argentina
;
CME
;
Continuing Medical Education
;
CPD
;
Continuing Professional Development
;
EUCERD
;
European Union Committee of Experts on Rare
Diseases
;
EURODIS
;
European Rare
Diseases
Organization
;
EUROPLAN
;
European Project for Rare
Diseases
National Plans Development
;
GRDR
;
Global Rare Disease Patient Registry and Data Repository
;
IRDiRC
;
International Rar
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2015
10.
Modulation of learning and memory by natural polyamines
作者:
Gustavo Petri Guerra
a
;
Maribel Antonello Rubin
b
;
marubin@smail.ufsm.br" class="auth_mail" title="E-mail the corresponding author
;
Carlos Fernando Mello
c
;
cf.mello@smail.ufsm.br" class="auth_mail" title="E-mail the corresponding author
关键词:
Putrescine (PubChem CID
;
1045)
;
Spermidine (PubChem CID
;
1102)
;
Spermine (PubChem CID
;
1103)
;
Arcaine (PubChem CID
;
2227)
;
Ifenprodil (PubChem CID
;
3689)
;
Traxoprodil (PubChem CID
;
219101)
;
MK-801 (PubChem CID
;
180081)
;
Morphine (PubChem CID
;
5288826)
;
Naloxone (PubChem CID
;
5284596)
;
dl-alpha-difluoromethylornithine (PubChem CID
;
3009)
;
N(G)-Nitro-l-arginine methyl ester (PubChem CID
;
39836)
;
7-Nitroindazole (PubChem CID
;
1893)
;
H-89 (PubChem CID
;
449241)
;
GF 109203X (PubChem CID
;
2396)
;
Acampr
刊名:Pharmacological Research
出版年:2016
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