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内部出版物
CNKI学位论文(93)
知网期刊论文(114)
在“
SpringerLink电子期刊
”中,
命中:
27
条,耗时:0.0779583 秒
在所有数据库中总计命中:
207
条
1.
Pulmonary manifestations in Niemann-Pick type C disease with mutations in
NPC2
gene
: case report and review of literature
作者:
Jayesh Sheth
;
Jijo John Joseph
;
Krati Shah
;
Mamta Muranjan…
关键词:
Alveolar proteinosis
;
Case report
;
Hepatosplenomegaly
;
Lung involvement
;
Lysosomal Storage Disorders
;
Niemann
;
Pick disease type C
;
NPC2
gene
刊名:BMC Medical
Gene
tics
出版年:2017
2.
Gene
tic and laboratory diagnostic approach in Niemann Pick disease type C
作者:
K. McKay Bounford
;
P. Gissen
关键词:
Niemann Pick type C disease (NP
;
C)
;
Diagnosis
;
Gene
tics
;
NPC1
;
NPC2
刊名:Journal of Neurology
出版年:2014
3.
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
作者:
Matthis Synofzik
;
Florian Harmuth
;
Miriam Stampfer…
关键词:
Ataxia
;
Recessive ataxia
;
Early onset ataxia
;
Gene
tics
;
Lysosomal storage diseases
;
Prevalence
刊名:Journal of Neurology
出版年:2015
4.
Complex lipid trafficking in Niemann-Pick disease type C
作者:
Marie T. Vanier (1)
1. Institut National de la Sant茅 et de la Recherche M茅dicale U820
;
Universit茅 Lyon-1 EA4611
;
Facult茅 de M茅decine Lyon-Est
;
7 Rue G. Paradin
;
69008
;
Lyon
;
France
刊名:Journal of Inherited Metabolic Disease
出版年:2015
5.
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40?years
作者:
Helena Jahnova
;
Lenka Dvorakova
;
Hana Vlaskova…
关键词:
Niemann
;
Pick disease type C (NPC)
;
Bone marrow smear (BMS)
;
Cholesterol
;
Filipin
;
NPC1
;
NPC2
;
Diagnosis
刊名:Orphanet Journal of Rare Diseases
出版年:2014
6.
Temporal transcriptome analysis of the chicken embryo yolk sac
作者:
Liran Yadgary (16)
Eric A Wong (17)
Zehava Uni (16)
16. Department of Animal Science
;
The Robert H. Smith Faculty of Agriculture
;
Food and Environment
;
The Hebrew University
;
76100
;
Rehovot
;
Israel
17. Department of Animal and Poultry Sciences
;
Virginia Tech
;
24061
;
Blacksburg
;
VA
;
USA
关键词:
Yolk sac
;
Gene
expression
;
Transcriptome analysis
;
Chicken embryo
;
Epithelial cells
;
Nutrient transport
;
Lipoproteins
;
Cytoskeleton
;
Erythropoiesis
刊名:BMC Genomics
出版年:2014
7.
Gene
tics of Cholesterol Efflux
作者:
Iulia Iatan (1)
Aurélien Palmyre (2)
Sarah Alrasheed (3)
Isabelle Ruel (4)
Jacques
Gene
st (5)
关键词:
HDL
;
Coronary artery disease
;
Gene
tics
;
Cholesterol efflux
;
ABCA1
;
Apo AI
;
ABCG1
;
SR
;
BI
;
Cholesteryl ester hydrolases
;
NPC1
;
NPC2
;
LIPA
;
SMPD1
;
StAR D3
;
miRNA
;
Genome wide association studies
刊名:Current Atherosclerosis Reports
出版年:2012
8.
Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O
作者:
Katarzyna Kwiatkowska
;
Ewelina Marsza?ek–Sadowska…
关键词:
Niemann
;
Pick C disease
;
Lipid storage diseases
;
Cholesterol
;
binding proteins
;
Filipin
;
Perfringolysin O
刊名:Orphanet Journal of Rare Diseases
出版年:2014
9.
Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease
作者:
Sara Wouters (1)
Linda De Meirleir (2)
Edward Campforts (1)
Annik Lampo (1)
1. Child and adolescent psychiatry
;
PAika - UZ Brussel
;
Laarbeeklaan 101
;
Brussels
;
1090
;
Belgium
2. Child neurology
;
metabolic diseases
;
2UZ Brussel
;
Laarbeeklaan 101
;
Brussels
;
1090
;
Belguim
关键词:
Niemann
;
pick type C
;
Psychosis
;
Psychiatric signs
;
Children
;
Adolescents
刊名:Child and Adolescent Psychiatry and Mental Health
出版年:2014
10.
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin
作者:
Natascha Bergamin (1)
Andrea Dardis (2)
Antonio Beltrami (1)
Daniela Cesselli (1)
Silvia Rigo (1)
Stefania Zampieri (2)
Rossana Domenis (1)
Bruno Bembi (2)
Carlo Alberto Beltrami (1)
关键词:
Niemann Pick C
;
Human neuronal model
;
Adult stem cells
;
Neuronal differentiation
刊名:Orphanet Journal of Rare Diseases
出版年:2013
1
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