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馆藏书目(1)
CNKI学位论文(184)
CNKI期刊论文0611(1)
知网期刊论文(94)
在“
Elsevier电子期刊
”中,
命中:
175
条,耗时:小于0.01 秒
在所有数据库中总计命中:
280
条
1.
Variability of
sweat
chloride
concentration in subjects with cystic fibrosis and G551D mutations
作者:
F. Vermeulen
a
;
francois.vermeulen@uzleuven.be
;
C. Le Camus
b
;
J.C. Davies
c
;
d
;
D. Bilton
c
;
e
;
D. Milenković
e
;
K. De Boeck
a
关键词:
Sweat
chloride
;
Cystic fibrosis
;
G551D
;
Endpoint
;
Variability
刊名:Journal of Cystic Fibrosis
出版年:2017
2.
Biological variability of the
sweat
chloride
in diagnostic
sweat
tests: A retrospective analysis
作者:
F. Vermeulen
a
;
francois.vermeulen@uzleuven.be
;
P. Lebecque
b
;
K. De Boeck
a
;
T. Leal
c
关键词:
Cystic fibrosis
;
Variability
;
Cystic fibrosis
;
Diagnosis
刊名:Journal of Cystic Fibrosis
出版年:2017
3.
Correlation of
sweat
chloride
and percent predicted FEV
1
in cystic fibrosis patients treated with ivacaftor
作者:
Meredith C. Fidler
a
;
Meredith_fidler@vrtx.com
;
Jack Beusmans
b
;
Paul Panorchan
b
;
Fredrick Van Goor
a
关键词:
CF
;
cystic fibrosis
;
CFTR
;
CF transmembrane conductance regulator
;
CI
;
confidence interval
;
ppFEV1
;
percent predicted forced expiratory volume in 1
s ;
q12h
;
every 12
h
刊名:Journal of Cystic Fibrosis
出版年:2017
4.
Diagnosis of Cystic Fibrosis in Screened Populations
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Michelle S. Howenstine
;
MD
3
;
Anne Munck
;
MD
4
;
Richard B. Parad
;
MD
;
MPH
5
;
Margaret Rosenfeld
;
MD
;
MPH
6
;
Olaf Sommerburg
;
MD
7
;
Frank J. Accurso
;
MD
8
;
Jane C. Davies
;
MBChB
;
FRCPCH
;
MD
9
;
Michael J. Rock
;
MD
1
;
Don B. Sanders
;
MD
;
MS
10
;
Michael Wilschanski
;
MBBS
11
;
Isabelle Sermet-Gaudelus
;
MD
;
PhD
12
;
Hannah Blau
;
MBBS
13
;
Silvia Gartner
;
MD
14
;
Susanna A. McColley
;
MD
15
关键词:
CF screen positive
;
inconclusive diagnosis
;
CFTR-related metabolic syndrome
;
immunoreactive trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
newborn screening
;
pancreatitis associated protein
;
sweat
test
刊名:The Journal of Pediatrics
出版年:2017
5.
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Clement L. Ren
;
MD
3
;
Sarah E. Hempstead
;
MS
2
;
Frank Accurso
;
MD
4
;
Nico Derichs
;
MD
5
;
Michelle Howenstine
;
MD
3
;
Susanna A. McColley
;
MD
6
;
Michael Rock
;
MD
1
;
Margaret Rosenfeld
;
MD
;
MPH
7
;
Isabelle Sermet-Gaudelus
;
MD
;
PhD
8
;
Kevin W. Southern
;
MBChB
;
PhD
9
;
Bruce C. Marshall
;
MD
2
;
Patrick R. Sosnay
;
MD
10
关键词:
newborn screening
;
CF-screen positive
;
inconclusive diagnosis
;
CFTR-related metabolic syndrome
;
immunoreactive trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
pancreatitis associated protein
;
sweat
test
刊名:The Journal of Pediatrics
出版年:2017
6.
Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
作者:
Clement L. Ren
;
MD
1
;
Drucy S. Borowitz
;
MD
2
;
Tanja Gonska
;
MD
3
;
Michelle S. Howenstine
;
MD
1
;
Hara Levy
;
MD
4
;
John Massie
;
MBBS
;
FRACP
;
PhD
5
;
Carlos Milla
;
MD
6
;
Anne Munck
;
MD
7
;
Kevin W. Southern
;
MBChB
;
PhD
8
关键词:
immunoreactive trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
newborn screening
;
sweat
chloride
刊名:The Journal of Pediatrics
出版年:2017
7.
Variability of
sweat
chloride
— A never ending story
作者:
Burkhard Tü
;
mmler
;
tuemmler.burkhard@mh-hannover.de
刊名:Journal of Cystic Fibrosis
出版年:2017
8.
Diagnosis of Cystic Fibrosis in Nonscreened Populations
作者:
Patrick R. Sosnay
;
MD
1
;
Terry B. White
;
PhD
2
;
Philip M. Farrell
;
MD
;
PhD
3
;
Clement L. Ren
;
MD
4
;
Nico Derichs
;
MD
5
;
Michelle S. Howenstine
;
MD
4
;
Jerry A. Nick
;
MD
6
;
Kris De Boeck
;
MD
7
关键词:
CFTR-related disorder
;
cystic fibrosis
;
genotype
;
mutation
;
penetrance
;
variant
;
atypical CF
;
adult diagnosis of CF
刊名:The Journal of Pediatrics
出版年:2017
9.
Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor
作者:
Myriam Mesbahi
a
;
1
;
Michal Shteinberg
b
;
c
;
1
;
Michael Wilschanski
d
;
Aurelie Hatton
a
;
Thao Nguyen&ndash
;
Khoa
a
;
Hannah Friedman
d
;
Michael Cohen
d
;
Virginie Escabasse
e
;
Muriel Le Bourgeois
a
;
Vicenzina Lucidi
f
;
Isabelle Sermet-Gaudelus
f
;
Isabelle.sermet@aphp.fr
;
Laurence Bassinet
g
;
2
;
Galit Livnat
b
;
c
;
2
关键词:
Cystic fibrosis
;
Nasal potential difference
;
Evaporimetry
;
Short circuit current
;
Ivacaftor
;
CFTR modulators
刊名:Journal of Cystic Fibrosis
出版年:2017
10.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
作者:
Patrick R. Sosnay
;
MD
1
;
Danieli B. Salinas
;
MD
2
;
Terry B. White
;
PhD
3
;
Clement L. Ren
;
MD
4
;
Philip M. Farrell
;
MD
;
PhD
5
;
Karen S. Raraigh
;
MGC
6
;
Emmanuelle Girodon
;
MD
7
;
Carlo Castellani
;
MD
8
关键词:
CFTR genetic testing
;
CFTR mutations
;
CFTR-related disorder
;
cystic fibrosis
;
genotype
;
genotype-phenotype correlation mutation
;
MVCC
;
penetrance
;
variant
刊名:The Journal of Pediatrics
出版年:2017
1
2
3
4
5
6
7
8
9
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