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内部出版物
CNKI学位论文(90)
知网期刊论文(92)
在“
SpringerLink电子期刊
”中,
命中:
33
条,耗时:0.0379815 秒
在所有数据库中总计命中:
182
条
1.
A comparison of central nervous system involvement in patients with classical
Fabry
disease
or the later-
onset
subtype with the IVS4+919G>A mutation
作者:
Han-Jui Lee
;
Ting-Rong Hsu
;
Sheng-Che Hung
;
Wen-Chung Yu
;
Tzu-Hung Chu…
关键词:
Agalsidase alfa
;
Central nervous system manifestations
;
Fabry
Outcome Survey
;
Later
;
onset
Fabry
disease
;
Magnetic resonance imaging
刊名:BMC Neurology
出版年:2017
2.
Metabolic progression to clinical phenotype in classic
Fabry
disease
作者:
Marco Spada
;
David Kasper
;
Veronica Pagliardini…
关键词:
Fabry
disease
;
Globotriaosylsphingosine
;
Lysosomal storage disorders
刊名:Italian Journal of Pediatrics
出版年:2017
3.
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
作者:
Emily C. Lisi
;
Shawn E. McCandless
关键词:
Newborn screening
;
Lysosomal storage
disease
s
;
Qualitative research
;
Healthcare providers’ opinions
刊名:Journal of Genetic Counseling
出版年:2016
4.
Neuromuscular Issues in Systemic
Disease
作者:
Wolfgang Grisold
;
Anna Grisold
关键词:
Systemic
disease
;
Neuromuscular
disease
;
Investigational methods
;
Myopathies
;
Neuropathies
刊名:Current Neurology and Neuroscience Reports
出版年:2015
5.
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-
onset
fabry
mutation (IVS4--19G-gt;?A)
作者:
Ting-Rong Hsu
;
Shih-Hsien Sung
;
Fu-Pang Chang…
关键词:
Endomyocardial biopsy
;
Enzyme replacement therapy
;
Fabry
disease
;
IVS4--19G-gt
;
?A
;
Left ventricular hypertrophy
刊名:Orphanet Journal of Rare
Disease
s
出版年:2014
6.
Reproducibility of native myocardial T1 mapping in the assessment of
Fabry
disease
and its role in early detection of cardiac involvement by cardiovascular magnetic resonance
作者:
Silvia Pica
;
Daniel M Sado…
关键词:
Cardiovascular magnetic resonance
;
T1 mapping
;
Speckle
;
tracking strain
;
Diastolic function
;
Fabry
disease
刊名:Journal of Cardiovascular Magnetic Resonance
出版年:2014
7.
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-
onset
Fabry
patients with the Chinese hotspot mutation (IVS4+919G>A)
作者:
Hao-Chuan Liu
;
Hsiang-Yu Lin
;
Chia-Feng Yang…
关键词:
Biomarker
;
Fabry
disease
;
Globotriaosylsphingosine
;
IVS4--19G-gt
;
?A mutation
;
Outcome
刊名:Orphanet Journal of Rare
Disease
s
出版年:2014
8.
De novo mutation in a male patient with
Fabry
disease
: a case report
作者:
Francesco Iemolo (8) (9)
Federica Pizzo (8)
Giuseppe Albeggiani (8)
Carmela Zizzo (8)
Paolo Colomba (8)
Simone Scalia (10) (8)
Caterina Bartolotta (10) (8)
Giovanni Duro (8)
关键词:
Fabry
disease
;
α
;
galactosidase A
;
GLA gene
;
D165H mutation
;
De novo mutation
刊名:BMC Research Notes
出版年:2014
9.
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage
disease
s
作者:
A. S. Mello (1)
M. P. Goldim (1)
J. Mezzalira (1)
C. S. Garcia (1)
V. V. Daitz (1)
C. D. Castilhos (1)
M. S. Viegas (2)
O. V. Vieira (2)
J. C. Coelho (1)
关键词:
Lymphocyte transformation
;
Inborn errors of metabolism
;
Epsteinarr virus
;
Lysosomal storage disorders
;
Pompe
disease
;
Fabry
disease
;
Gaucher
disease
刊名:Molecular and Cellular Biochemistry
出版年:2014
10.
A case of
Fabry
nephropathy with histological features of oligonephropathy
作者:
Masashi Nishida (1)
Kitaro Kosaka (2)
Koh Hasegawa (2)
Kousuke Nishikawa (1)
Toshiyuki Itoi (1)
Takahiro Tsukimura (3)
Tadayasu Togawa (3)
Hitoshi Sakuraba (4)
Kenji Hamaoka (1)
关键词:
Congenital oligonephropathy
;
Later
;
onset
Fabry
disease
;
Premature infants
;
Proteinuria
;
Renal dysfunction
刊名:European Journal of Pediatrics
出版年:2014
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