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
SpringerLink电子期刊(7)
NATURE电子期刊(2)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:0.0249908 秒
在所有数据库中总计命中:
17
条
1.
Presentation and Diagnostic Evaluation of Mitochondrial Disease
作者:
David
P.
Dimmock
;
MD
a
;
b
;
Michael W. Lawlor
;
MD
;
PhD
c
;
mlawlor@mcw.edu
刊名:Pediatric Clinics of North America
出版年:2017
2.
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias
作者:
Uta Lichter-Konecki
;
Vinay Nadkarni
;
Asha Moudgil
;
Noah Cook
;
Johannes Poeschl
;
Michael T. Meyer
;
David
Dimmock
;
Stephen Baumgart
关键词:
TH
;
therapeutic hypothermia
;
HA
;
hyperammonemia
;
UCD
;
urea cycle disorder
;
OA
;
organic aciduria
刊名:Molecular Genetics and Metabolism
出版年:2013
3.
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy
作者:
Adam H. Buchaklian
;
Daniel Helbling
;
Stephanie M. Ware
;
David
P.
Dimmock
关键词:
Mitochondrial DNA depletion
;
DGUOK deficiency
;
Hepatocerebral
;
cardiomyopathy
刊名:Molecular Genetics and Metabolism
出版年:2012
4.
PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases
作者:
Renkui Bai
;
Jaimie Higgs
;
Sharon Suchy
;
Mustafa Saifi
;
Melanie Knight
;
Federica Gibellini
;
Sabrina Buchholz
;
Sonia Benhamed
;
Dolores Arjona
;
Barbara Boggs
;
Craig Chinault
;
Yuriy Shevchenko
;
Nizar Smaoui
;
Gabriele Richard
;
John Compton
;
Sherri Bale
;
Sumit Parikh
;
William J. Rhead
;
David
Dimmock
;
Susan Sparks
;
et al.
刊名:Mitochondrion
出版年:2012
5.
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
作者:
Jack Q. Ji
;
David
Dimmock
;
Lin-Ya Tang
;
Maria Descartes
;
Roberto Gomez
;
S. Lane Rutledge
;
Eric S. Schmitt
;
Lee-Jun Wong
关键词:
Mitochondrial DNA depletion
;
DGUOK
mutation
;
Splicing site mutation
;
Hepatocerebral mtDNA depletion
;
Exon skipping
刊名:Mitochondrion
出版年:2010
6.
Citrin deficiency, a perplexing global disorder
作者:
David
Dimmock
;
Bruno Mar
a ;
Carlo Dionisi-Vici
;
Jing Wang
;
Soledad Kleppe
;
Giuseppe Fiermonte
;
Renkui Bai
;
Bryan Hainline
;
Ada Hamosh
;
William E. O’
;
Brien
;
Fern
;
o Scaglia
;
Lee-Jun Wong
关键词:
Citrullinemia
;
CTLN2
;
NICCD
;
Therapy
;
Newborn screening
;
Intrahepatic cholestasis
;
Bipolar disorder
;
Hepatic steatosis
刊名:Molecular Genetics and Metabolism
出版年:2009
7.
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations
作者:
James Collins
;
Kevin E. Bove
;
David
Dimmock
;
Paula Morehart
;
Lee-Jun Wong
;
Brenda Wong
关键词:
Mitochondrial DNA depletion syndrome
;
Thymidine kinase 2
;
Myopathy
;
Respiratory chain
刊名:Neuromuscular Disorders
出版年:2009
8.
28. Neurological phenotype is the key predictor of long-term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency
作者:
David
P.
Dimmock
;
J. Kay Dunn
;
Annette Feigenbaum
;
Tony Rupar
;
Rita Horvath
;
Peter Freisinger
;
Bé
;
né
;
dicte Mousson de Camaret
;
Lee-Jun Wong
;
Fern
;
o Scaglia
刊名:Mitochondrion
出版年:2009
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2017年(1)
2013年(1)
2012年(2)
2010年(1)
2009年(3)
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
.