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SpringerLink电子期刊(39)
Elsevier电子期刊(90)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
90
条,耗时:0.0629979 秒
在所有数据库中总计命中:
130
条
1.
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
作者:
Nancy E. Braverman
a
;
nancy.braverman@mcgill.ca" class="auth_mail" title="E-mail the corresponding author
;
Gerald V. Raymond
b
;
gvraymon@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
William B. Rizzo
c
;
wrizzo@umnc.edu" class="auth_mail" title="E-mail the corresponding author
;
Ann B. Moser
d
;
mosera@kennedykrieger.org" class="auth_mail" title="E-mail the corresponding author
;
Mark E. Wilkinson
e
;
mark-wilkinson@uiowa.edu" class="auth_mail" title="E-mail the corresponding author
;
Edwin M. Stone
e
;
edwin-stone@uiowa.edu" class="auth_mail" title="E-mail the corresponding author
;
Steven J. Steinberg
f
;
ssteinb8@jhmi.edu" class="auth_mail" title="E-mail the corresponding author
;
Michael F. Wangler
g
;
michael.wangler@bcm.edu" class="auth_mail" title="E-mail the corresponding author
;
Eric T. Rush
h
;
erush@unmc.edu" class="auth_mail" title="E-mail the corresponding author
;
Joseph G. Hacia
i
;
hacia@usc.edu" class="auth_mail" title="E-mail the corresponding author
;
Mousumi Bose
j
;
mousumi@thegfpd.org" class="auth_mail" title="E-mail the corresponding author
关键词:
AAV
;
adeno-associated virus
;
AED
;
anti-epileptic drug(s)
;
DHA
;
docosahexaenoic acid
;
DHCA
;
dihydroxycholestanoic acid
;
ERG
;
electroretinogram
;
G-tube
;
gastrostomy tube
;
IRD
;
infantile
Refsum
disease
;
LC-MS/MS
;
liquid chromatography/tandem mass spectrometry
;
NALD
;
neonatal adrenoleukodystrophy
;
OCT
;
optical coherence tomography
;
PBD
;
peroxisome biogenesis disorder
;
PBD-ZSD
;
peroxisome biogenesis disorder-Zellweger spectrum disorder
;
THCA
;
trihydroxycholestanoic acid
;
VLCFA
;
very long chain fatty
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder
作者:
Shandi Hiebler
a
;
1
;
Tomohiro Masuda
b
;
1
;
Joseph G. Hacia
c
;
Ann B. Moser
a
;
d
;
Phyllis L. Faust
e
;
Anita Liu
a
;
Nivedita Chowdhury
a
;
Ning Huang
c
;
Amanda Lauer
f
;
Jean Bennett
g
;
Paul A. Watkins
a
;
d
;
Donald J. Zack
b
;
h
;
i
;
j
;
k
;
Nancy E. Braverman
l
;
m
;
Gerald V. Raymond
a
;
d
;
2
;
Steven J. Steinberg
a
;
d
;
h
;
ssteinb8@jhmi.edu" class="auth_mail
关键词:
ABR
;
auditory brainstem response
;
C26
;
0-LPC
;
C26
;
0-lysophosphatidylethanolamine
;
DHCA
;
dihydroxycholestanoic acid
;
DMSO
;
dimethylsulfoxide
;
ERG
;
electroretinogram
;
FBS-EMEM
;
fetal bovine serum-Eagle's minimum essential media
;
h
;
hour
;
IRD
;
infantile
Refsum
disease
;
LC&ndash
;
MS/MS
;
liquid chromatography tandem mass spectrometry
;
NALD
;
neonatal adrenoleukodystrophy
;
PE
;
phosphatidylethanolamine
;
PEX
;
peroxins
;
PEX1-G843D
;
human PEX1 mutation c.2528G>
;
A (p. G843D)
;
Pex1-G844D
;
murine Pex1 mutatio
刊名:Molecular Genetics and Metabolism
出版年:April, 2014
3.
Formation and functions of the corneocyte lipid envelope (CLE)
作者:
Peter M. Elias
a
;
e
;
eliasp@derm.ucsf.edu" class="auth_mail
;
Robert Gruber
a
;
b
;
e
;
Debra Crumrine
a
;
e
;
Gopinathan Menon
c
;
Mary L. Williams
d
;
Joan S. Wakefield
a
;
e
;
Walter M. Holleran
a
;
e
;
Yoshikazu Uchida
a
;
e
关键词:
acylCer
;
acylceramides
;
CE
;
cornified envelope
;
CLE
;
corneocyte-bound lipid envelope
;
EFAD
;
essential fatty acid deficiency
;
(F)FFA
;
(free) fatty acids
;
HI
;
Harlequin ichthyosis
;
NLSDI
;
neutral lipid storage
disease
with ichthyosis
;
蠅-OH-Cer
;
omega-hydroxy-ceramides
;
蠅-OH-FA
;
omega-hydroxy-fatty acids
;
蠅-OH-(glucosyl)Cer
;
omega-hydroxy-glucosylceramides
;
RD
;
Refsum
disease
;
SC
;
stratum corneum
;
SG
;
stratum granulosum
刊名:Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids
出版年:March, 2014
4.
Phytanic acid and pristanic acid, branched-chain fatty acids associated with
Refsum
disease
and other inherited peroxisomal disorders, mediate intracellular Ca
2+
signaling through activation of free fatty acid receptor GPR40
作者:
Nicol Kruska
a
;
Georg Reiser
;
a
;
georg.reiser@med.ovgu.de"" rel=""nofollow
关键词:
Peroxisomal
disease
;
Calcium deregulation
;
Fatty acid toxicity
;
Fatty acid receptor
刊名:Neurobiology of
Disease
出版年:2011
5.
Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene
作者:
Shuji Matsui
;
Masuko Funahashi
;
Ayako Honda
;
Nobuyuki Shimozawa
关键词:
Infantile
Refsum
disease
;
Mosaicism
;
Leukodystrophy
;
Peripheral neuropathy
;
Hearing impairment
刊名:Brain and Development
出版年:2013
6.
The influence of the branched-chain fatty acids pristanic acid and
Refsum
disease
-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oli
作者:
Sabine Rö
;
nicke
;
Nicol Kruska
;
Stefan Kahlert
;
Georg Reiser
关键词:
Refsum
disease
;
Peroxisomal disorder
;
Mitochondrial potential
;
Reactive oxygen species
;
α
;
-Methylacyl-CoA racemase deficiency
;
Phytanic acid (3
7 ;
11
;
15-tetramethylhexadecanoic acid)
;
Pristanic acid (2
6 ;
10
;
14-tetramethylpentadecanoic acid)
;
Branched-
刊名:Neurobiology of
Disease
出版年:2009
7.
Adult
Refsum
Disease
: A Form of Tapetoretinal Dystrophy Accessible to Therapy
作者:
Klaus Rü
;
ether
;
Eleanor Baldwin
;
Minne Casteels
;
Michael D. Feher
;
Morten Horn
;
Susan Kuranoff
;
Bart P. Leroy
;
Ronald J. W
;
ers
;
Anthony S. Wierzbicki
关键词:
adult
Refsum
disease
;
anosmia
;
ataxia
;
blood plasma filtration
;
ichthyosis
;
phytanic acid
;
polyneuropathy
;
sensorineural hearing loss
;
tapetoretinal degeneration
刊名:Survey of Ophthalmology
出版年:2010
8.
Phytanic acid metabolism in health and
disease
作者:
Ronald J.A. Wanders
a
;
r.j.wanders@amc.uva.nl"" rel=""nofollow
;
Jasper Komen
b
;
Sacha Ferdinandusse
a
关键词:
Peroxisome
;
Refsum
disease
;
Fatty acid
;
Phytanic acid
;
Fatty acid oxidation
刊名:Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids
出版年:2011
9.
Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats
作者:
Guilhian Leipnitz
;
Alex
;
re U. Amaral
;
Â
;
ngela Zanatta
;
Bianca Seminotti
;
Carolina G. Fern
;
es
;
Lisiane A. Knebel
;
Carmen R. Vargas
;
Moacir Wajner
关键词:
Phytanic acid
;
Refsum
disease
;
Oxidative stress
;
Cerebellum
;
Cerebral cortex
刊名:Life Sciences
出版年:2010
10.
Refsum
disease
due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa
作者:
Josef Finsterer
;
Gü
;
nther Regelsberger
;
Till Voigtlä
;
nder
关键词:
Phytanic acid
;
Alpha-oxidation
;
Peroxisomes
;
Lipid metabolism
;
Fatty acids
;
Multi-system
disease
;
Polyneuropathy
;
Retinitis pigmentosa
;
Deafness
刊名:Journal of the Neurological Sciences
出版年:2008
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