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Wiley电子期刊(1)
SpringerLink电子期刊(42)
Elsevier电子期刊(63)
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ACS电子期刊(2)
在“
SpringerLink电子期刊
”中,
命中:
42
条,耗时:小于0.01 秒
在所有数据库中总计命中:
110
条
1.
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
作者:
D. Marques-da-Silva
;
V. dos Reis Ferreira…
刊名:Journal of Inherited Metabolic Disease
出版年:2017
2.
Low BIK outside-inside-out interactive inflammation immune-induced transcription-dependent apoptosis through FUT3-
PMM2
-SQSTM1-
作者:
Juxiang Huang
;
Lin Wang
;
Minghu Jiang
;
Qingchun Chen
;
Xiaoyu Zhang…
关键词:
BIK interactive network
;
Outside
;
inside
;
out
;
Apoptosis
;
Transcription
;
dependent
;
Inflammation immune
刊名:Immunologic Research
出版年:2016
3.
A nationwide survey of
PMM2
-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
作者:
Rita Barone
;
M. Carrozzi
;
R. Parini
;
R. Battini
;
D. Martinelli…
关键词:
CDG
;
Congenital disorders of glycosylation
;
Severe phenotype
;
Mild neurological variant
;
PMM2
gene mutation
;
Transferrin glycosylation
;
Pharmacological chaperones
刊名:Journal of Neurology
出版年:2015
4.
29 French adult patients with
PMM2
-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
作者:
Marie-Lorraine Monin
;
Cyril Mignot
;
Pascale De Lonlay…
关键词:
Congenital disorder of glycosylation
;
Cerebellar ataxia
;
Adult
;
Phosphomannomutase
;
PMM2
;
CDG
刊名:Orphanet Journal of Rare Diseases
出版年:2014
5.
Phosphomannomutase deficiency (
PMM2
-CDG): ataxia and cerebellar assessment
作者:
Mercedes Serrano
;
Víctor de Diego
;
Jordi Muchart…
关键词:
Cerebellum
;
Congenital disorders of glycosylation
;
Developmental disorders
;
Gait disorders/ataxia
;
MRI
;
Neuropsychological assessment
刊名:Orphanet Journal of Rare Diseases
出版年:2015
6.
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG
作者:
Per Bengtson
;
Bobby G. Ng
;
Jaak Jaeken…
刊名:Journal of Inherited Metabolic Disease
出版年:2016
7.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder
作者:
Sophie Collardeau-Frachon
;
Marie-Pierre Cordier…
刊名:Journal of Inherited Metabolic Disease
出版年:2016
8.
Structural properties of pressure-induced structural phase transition of Si-doped GaAs by angular-dispersive X-ray diffraction
作者:
Kung-Liang Lin
;
Chih-Ming Lin
;
Yu-Sheng Lin
;
Sheng-Rui Jian…
刊名:Applied Physics A: Materials Science & Processing
出版年:2016
9.
Exome sequencing revealed
PMM2
gene mutations in a French-Canadian family with congenital atrophy of the cerebellum
作者:
Anne Noreau
;
Philippe Beauchemin
;
Alexandre Dionne-Laporte…
关键词:
Cerebellar
;
Ataxia
;
Whole exome sequencing
;
PMM2
;
Mutations
刊名:Cerebellum & Ataxias
出版年:2014
10.
Subcutaneous fat pads on body MRI -an early sign of congenital disorder of glycosylation
PMM2
-CDG (CDG1a)
作者:
Almundher A. Al-Maawali (1)
Elka Miller (3)
Andreas Schulze (1)
Grace Yoon (1) (2)
Susan I. Blaser (4)
关键词:
Infant
;
Congenital disorders of glycosylation
;
CDG1a
;
phosphomannomutase 2
;
Congenital disorder of glycosylation (
PMM2
;
CDG)
;
Jaeken syndrome
;
Subcutaneous fat deposits
刊名:Pediatric Radiology
出版年:2014
1
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