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内部出版物
CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Chitinase activation in patients with fungus-associated cystic fibrosis lung disease
作者:
Andreas Hector
;
MD
a
;
&lowast
;
;
Sanjay H. Chotirmall
;
MD
;
PhD
b
;
&lowast
;
;
Gillian M. Lavelle
;
PhD
c
;
Bojana Mirković
;
PhD
c
;
Deirdre Horan
;
MD
c
;
Laura Eichler
;
MD
a
;
Markus Mezger
;
MD
;
PhD
a
;
Anurag Singh
;
PhD
a
;
Anjai Ralhan
;
PhD
a
;
Sina Berenbrinker
;
MD
a
;
Ines Mack
;
MD
d
;
Regina
Ensenauer
;
MD
e
;
Joachim Riethmü
;
ller
;
MD
a
;
Ute Graepler-Mainka
;
MD
a
;
Michelle A. Murray
;
MD
c
;
Matthias Griese
;
MD
f
;
N. Gerry McElvaney
;
MD
c
;
&lowast
;
;
Dominik Hartl
;
MD
a
;
&lowast
;
;
dominik.hartl@med.uni-tuebingen.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Cystic fibrosis
;
lung disease
;
chitinases
;
chitotriosidase
;
fungi
;
Candida species
;
neutrophils
;
proteases
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
2.
Digital image analysis approach for lipid droplet size quantitation of Oil Red O-stained cultured cells
作者:
Manuel J. Deutsch
;
Sonja C. Schriever
;
Adelbert A. Roscher
;
Regina
Ensenauer
关键词:
Lipid droplet size
;
Light microscopy
;
Quantitation
;
Digital image analysis
;
Open source software
刊名:Analytical Biochemistry
出版年:15 January, 2014
3.
Pathogenesis of Human Mitochondrial Diseases Is Modulated by Reduced Activity of the Ubiquitin/Proteasome System
作者:
Alexandra Segref
1
;
É
;
va Kevei
1
;
Wojciech Pokrzywa
1
;
Kathrin Schmeisser
2
;
Johannes Mansfeld
2
;
5
;
Nurit Livnat-Levanon
3
;
Regina
Ensenauer
4
;
Michael H. Glickman
3
;
Michael Ristow
2
;
5
;
Thorsten Hoppe
1
;
thorsten.hoppe@uni-koeln.de" class="auth_mail
刊名:Cell Metabolism
出版年:1 April, 2014
4.
2p21 Deletions in hypotonia-cystinuria syndrome
作者:
Thomas Eggermann
;
Sabrina Spengler
;
Andreas Venghaus
;
Bernd Denecke
;
Klaus Zerres
;
Michael Baudis
;
Regina
Ensenauer
关键词:
Hypotonia
;
Cystinuria syndrome
;
SLC3A1
;
PREPL
;
Compound heterozygous deletions
刊名:European Journal of Medical Genetics
出版年:2012
5.
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I ¡ª A decade of experience
作者:
Stefan K?lker
;
S.P. Nikolas Boy
;
Jana Heringer
;
Edith M¨¹ller
;
Esther M. Maier
;
Regina
Ensenauer
;
Chris M¨¹hlhausen
;
Andrea Schlune
;
Cheryl R. Greenberg
;
David M. Koeller
;
Georg F. Hoffmann
;
Gisela Haege
;
Peter Burgard
关键词:
3-OH-GA
;
3-hydroxyglutaric acid
;
AAS
;
amino acid supplement
;
ANOVA
;
analysis of variance
;
BBB
;
blood&ndash
;
brain barrier
;
CAT1
;
cationic amino acid transporter 1
;
GA
;
glutaric acid
;
GA-I
;
glutaric aciduria type I
;
GCDH
;
glutaryl-CoA dehydrogenase (EC 1.3.
刊名:Molecular Genetics and Metabolism
出版年:2012
6.
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
作者:
Jö
;
rn Oliver Sass
;
Regina
Ensenauer
;
Wulf Rö
;
schinger
;
Horst Reich
;
Ulrike Steuerwald
;
Oliver Schirrmacher
;
Katharina Engel
;
Johannes Hä
;
berle
;
Brage Storstein Andresen
;
André
;
Mé
关键词:
2-Methylbutyryl-CoA dehydrogenase
;
Methylbutyrylglycinuria
;
Isovaleryl-CoA dehydrogenase
;
Isovaleric acidemia
;
Organic acids
;
Newborn screening
;
Acylcarnitines
;
Valproic acid
;
Branched-chain amino acids
;
Fibroblasts
刊名:Molecular Genetics and Metabolism
出版年:2008
7.
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
作者:
Ensenauer
;
Regina
;
Tuchman
;
Mendel
;
El-Youssef
;
Mounif
;
Kotagal
;
Suresh
;
Ishitani
;
Michael B.
;
et. al.
关键词:
Ornithine transcarbamylase deficiency
;
Ornithine carbamoyltransferase deficiency
;
Hyperammonemia
;
Infantile liver transplantation
;
Citrulline supplementation
刊名:Molecular Genetics and Metabolism
出版年:2005
8.
A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening
作者:
Regina
Ensenauer
;
Jerry Vockley
;
Jan-Marie Willard
;
Joseph C. Huey
;
Jö
;
rn Oliver Sass
;
Steven D. Edl
;
Barbara K. Burton
;
Susan A. Berry
;
René
;
Santer
;
Sarah Grü
;
nert
;
Hans-Georg Koch
;
Iris Marquardt
;
Piero Rinaldo
;
Sihoun Hahn
;
Dietrich Matern
刊名:The American Journal of Human Genetics
出版年:2004
9.
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2
作者:
Rob Ofman
;
P.N. Jos Ruiter
;
Marike Feenstra
;
Marinus Duran
;
Tien Bwee Poll-The
;
Johannes Zschocke
;
Regina
Ensenauer
;
Willy Lehnert
;
Jö
;
rn Oliver Sass
;
Wolfgang Sperl
;
J.A. Ronald W
;
ers
刊名:The American Journal of Human Genetics
出版年:2003
10.
Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
作者:
Regina
E.
Ensenauer
;
Adewale Adeyinka
;
Heather C. Flynn
;
Virginia V. Michels
;
Noralane M. Lindor
;
D. Brian Dawson
;
Erik C. Thorl
;
Cindy Pham Lorentz
;
Jennifer L. Goldstein
;
Marie T. McDonald
;
Wendy E. Smith
;
Elba Simon-Fayard
;
Alan A. Alex
;
er
;
Anita S. Kulharya
;
Rhett P. Ketterling
;
Robin D. Clark
刊名:The American Journal of Human Genetics
出版年:2003
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