设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
CNKI学位论文(76)
知网期刊论文(26)
在“
Elsevier电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
102
条
1.
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
作者:
Raphael Schiffmann
1
;
raphael.schiffmann@baylorhealth.edu
;
Derralynn A. Hughes
2
;
Gabor E. Linthorst
3
;
Alberto Ortiz
4
;
Einar Svarstad
5
;
6
;
David G. Warnock
7
;
Michael L. West
8
;
Christoph Wanner
9
;
wanner_c@ukw.de
;
for Conference Participants
10
;
Daniel G. Bichet
;
Erik Ilsø
;
Christensen
;
Ricardo Correa-Rotter
;
Perry M. Elliott
;
Sandro Feriozzi
;
Agnes B. Fogo
;
Dominique P. Germain
;
Carla E.M. Hollak
;
Robert J. Hopkin
;
Jack Johnson
;
Ilkka Kantola
;
Jeffrey B. Kopp
;
Jü
;
rgen Krö
;
ner
;
Ale&scaron
;
Linhart
;
Ana Maria Martins
;
Dietrich Matern
;
Atul B. Mehta
;
Renzo Mignani
;
Behzad Najafian
;
Ichiei Narita
;
Kathy Nicholls
;
Greg T. Obrador
;
Joã
;
o Paulo Oliveira
;
Antonio Pisani
;
Juan Politei
;
Uma
Ramaswami
;
Markus Ries
;
Wim Terryn
;
Camilla Tø
;
ndel
;
Roser Torra
;
Bojan Vujkovac
;
Stephen Waldek
;
Jerry Walter
关键词:
chronic kidney disease
;
enzyme replacement therapy
;
Fabry disease
;
Fabry nephropathy
;
standard of care
刊名:Kidney International
出版年:2017
2.
Non-neuronopathic Gaucher disease: a retrospective review comparing therapeutic outcomes of 2-week and 4-week enzyme replacement therapy
作者:
Uma
Ramaswami
;
Hannah Heales
;
Niamh Finnegan
;
Mark Mckie
;
Derralynn Hughes
;
Atul Mehta
刊名:Molecular Genetics and Metabolism
出版年:2017
3.
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance
作者:
Anna Maitre
;
MBBS
;
Anna Maw
;
MBBS
;
Uma
Ramaswami
;
MBBS
;
MD
;
Sarah L. Morley
;
MBBS
;
PhD
;
sarah.morley@addenbrookes.nhs.uk" class="auth_mail" title="E-mail the corresponding author
关键词:
hereditary fructose intolerance
;
motor neuropathy
;
relapsing neuropathy
刊名:Pediatric Neurology
出版年:2016
4.
Vitamin D deficiency in Fabry disease: A single centre, retrospective review
作者:
Uma
Ramaswami
;
Jacira Marino
;
Mark Mckie
;
Atul Mehta
;
Derralynn Hughes
刊名:Molecular Genetics and Metabolism
出版年:2016
5.
Pedigree analysis in patients with Fabry disease: evaluating changes in referral and diagnosis over successive generations
作者:
Christine Lavery
;
Derralynn Hughes
;
Uma
Ramaswami
;
Chris Hendriksz
;
Tarek Hiwot
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
Abnormal filipin staining and phenotypic overlap between acid sphingomyelinase deficiency and Niemann-Pick C disease
作者:
Heather J. Church
;
Christine Egerton
;
Karen L. Tylee
;
Kate Riddick
;
Simon A. Jones
;
Uma
Ramaswami
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
7.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
作者:
M¨®nica Ramos
;
Sebasti¨¢n Menao
;
Mar¨ªa Arnedo
;
Beatriz Puisac
;
Mar¨ªa Concepci¨®n Gil-Rodr¨ªguez
;
Mar¨ªa Esperanza Teresa-Rodrigo
;
Mar¨ªa Hern¨¢ndez-Marcos
;
Germaine Pierre
;
Uma
Ramaswami
;
Carolina Baquero-Montoya
;
Gloria Bueno
;
Cesar Casale
;
Fausto G. Hegardt
;
Paulino G¨®mez-Puertas
;
Juan Pi¨¦
关键词:
Mitochondrial HMG-CoA synthase deficiency
;
Mutations
;
Ketone bodies
刊名:European Journal of Medical Genetics
出版年:2013
8.
Prediction of associational behaviour of binary liquid mixtures from viscosity data at 298.15, 303.15, 308.15 and 313.15 K
作者:
R.K. Shukla
;
a
;
rajeevshukla47@rediffmail.com
;
Naveen Awasthi
a
;
Atul K
uma
r
1
;
a
;
Alok Shukla
a
;
V.K. Pandey
2
;
a
关键词:
Viscosity
;
Associational behaviour
;
Ramaswami
and Anbananthan
;
(RS)
;
Prigogine
–
;
Flory–
;
Patterson (PFP)
刊名:Journal of Molecular Liquids
出版年:2011
9.
Children With Fabry Disease
作者:
Dr.
Uma
Ramaswami
;
FRCPCH
刊名:Clinical Therapeutics
出版年:2012
10.
116. Safety of agalsidase alfa in Fabry disease patients under 7 years old
作者:
Uma
Ramaswami
;
Rossella Parini
;
Michael Beck
刊名:Molecular Genetics and Metabolism
出版年:2010
1
2
按检索点细分(17)
作者(16)
按出版年细分(17)
2027年及以后(2)
2017年(2)
2016年(2)
2013年(1)
2012年(1)
2011年(1)
2010年(3)
2009年(1)
2008年(1)
2007年(1)
2006年(1)
2004年(1)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.