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内部出版物
Springer电子图书(1)
CNKI学位论文(611)
知网期刊论文(472)
在“
Elsevier电子期刊
”中,
命中:
506
条,耗时:0.0329855 秒
在所有数据库中总计命中:
1,084
条
1.
Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for
Inherited
Metabolic
Disorders
作者:
Kanwaldeep K. Mallhi
1
;
Angela R. Smith
1
;
Todd E. DeFor
2
;
Troy C. Lund
1
;
Paul J. Orchard
1
;
Weston P. Miller
1
;
mill4991@umn.edu
关键词:
Stem cell transplantation
;
Inherited
metabolic
disorders
;
Engrafted survival outcomes
;
High resolution
;
Allelic HLA
;
Umbilical cord
刊名:Biology of Blood and Marrow Transplantation
出版年:2017
2.
A novel tandem mass spectrometry method for first-line screening of mainly beta-thalassemia from dried blood spots
作者:
Chaowen Yu
a
;
b
;
c
;
d
;
1
;
Shuodan Huang
e
;
1
;
Ming Wang
a
;
b
;
c
;
d
;
Juan Zhang
a
;
b
;
c
;
d
;
Hao Liu
a
;
b
;
c
;
d
;
Zhaojian Yuan
a
;
b
;
c
;
d
;
Xingbin Wang
a
;
b
;
c
;
d
;
Xiaoyan He
a
;
b
;
c
;
d
;
Jie Wang
f
;
wj59726@sina.com
;
Lin Zou
a
;
b
;
c
;
d
;
zoulin74@126.com
关键词:
Hb
;
hemoglobin
;
MS/MS
;
tandem mass spectrometry
;
SCD
;
sickle cell
disorders
;
DBS
;
dried blood spots
;
IMD
;
inherited
metabolic
diseases
;
MRM
;
multiple reaction monitoring
;
EOFT
;
erythrocyte osmotic fragility test
;
IEF
;
isoelectric focusing
;
HPLC
;
high performance liquid chromatography
;
AHSP
;
αHb-stabilizing protein
刊名:Journal of Proteomics
出版年:2017
3.
Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene
作者:
Madhu Nagappa
a
;
b
;
Parayil Sankaran Bindu
a
;
b
;
drpsbindu@yahoo.co.in
;
Shwetha Chiplunkar
b
;
c
;
Periasamy Govindaraj
a
;
b
;
Gayathri Narayanappa
b
;
d
;
Ayyappan Krishnan
a
;
M.M. Srinivas Bharath
e
;
Aarthi Swaminathan
f
;
Jitender Saini
f
;
Hanumanthapura R. Arvinda
f
;
Sanjib Sinha
a
;
Pavagada S. Mathuranath
a
;
Arun B. Taly
a
;
b
关键词:
ABAT
;
GABA
;
Hyperkinetic movement disorder
;
Hypersomnolence
刊名:Brain and Development
出版年:2017
4.
Challenges identified in the management of patients with
inherited
metabolic
disorders
- A five year experience from Pakistan
作者:
Bushra Afroze
a
;
bushra.afroze@aku.edu" class="auth_mail" title="E-mail the corresponding author
;
Laila Lakhani
b
;
Laila.lakhani@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Farah Naz
b
;
farahnaz11@gamil.com" class="auth_mail" title="E-mail the corresponding author
;
Sana Somani
b
;
sana_somani@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Zabedah Md. Yunus
c
;
zabedah@imr.gov.my" class="auth_mail" title="E-mail the corresponding author
;
Nick Brown
d
;
nickjbrown@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Inherited
metabolic
disorders
;
Pakistan
;
Treatment
;
Antenatal testing
;
Newborn screening
;
Cascade screening
刊名:Egyptian Journal of Medical Human Genetics
出版年:2016
5.
The eye and the skin in nonendocrine
metabolic
disorders
作者:
Julio A. Urrets-Zavalí
a ;
MD
;
PhD
a
;
julioaurrets@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Evangelina Espó
;
sito
;
MD
a
;
gely_esposito@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Iliana Garay
;
MD
b
;
ilianastella@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Rodolfo Monti
;
MD
a
;
fitomonti@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Alejandro Ruiz-Lascano
;
MD
;
PhD
b
;
aruizlascano@hospitalprivadosa.com.ar" class="auth_mail" title="E-mail the corresponding author
;
Leandro Correa
;
MD
a
;
leandrocorrea50@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Horacio M. Serra
;
PhD
c
;
1
;
hserra@fcq.unc.edu.ar" class="auth_mail" title="E-mail the corresponding author
;
Andrzej Grzybowski
;
MD
;
PhD MBA
d
;
e
;
1
;
ae.grzybowski@gmail.com" class="auth_mail" title="E-mail the corresponding author
刊名:Clinics in Dermatology
出版年:2016
6.
Neuro
metabolic
disorders
are treatable causes of dystonia
作者:
A. Kuiper
a
;
H. Eggink
a
;
M.A.J. Tijssen
a
;
T.J. de Koning
a
;
b
;
t.j.de.koning@umcg.nl" class="auth_mail" title="E-mail the corresponding author
关键词:
Dystonia
;
Inborn errors of metabolism
;
Next generation sequencing
;
Non-motor symptoms
;
Quality of life
刊名:Revue Neurologique
出版年:2016
7.
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene
作者:
Khairunnisa Mukhtiar
a
;
Shahnaz Ibrahim
a
;
shahnaz.ibrahim@aku.edu" class="auth_mail" title="E-mail the corresponding author
;
Karin Tuschl
b
;
Phillipa Mills
b
关键词:
Inherited
hypermanganesemia
;
Polycythemia
;
SLC30A10 mutation
刊名:Brain and Development
出版年:2016
8.
Clinical presentation, etiology, and outcome of stroke in children: A hospital-based study
作者:
Amira Masri
a
;
masriamira69@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Iyad Al-Ammouri
b
关键词:
Stroke
;
Children
;
Jordan
;
Neuro
metabolic
diseases
;
MTHFR gene
刊名:Brain and Development
出版年:2016
9.
One carbon metabolism, a complex
metabolic
network involved in pathomechanisms of
inherited
disorders
, birth defects and age-related pathologies
作者:
Jean-Louis Gué
;
ant
jean-louis.gueant@medecine.uhp-nancy.fr" class="auth_mail" title="E-mail the corresponding author
jl.gueant@chu-nancy.fr" class="auth_mail" title="E-mail the corresponding author
刊名:Biochimie
出版年:2016
10.
New insights into the presence of sodium hydrogen urate monohydrate in Randall's plaque
作者:
Dominique Bazin
a
;
dominique.bazin@upmc.fr
;
Emmanuel Letavernier
b
;
c
;
Chantal Jouanneau
c
;
Pierre Ronco
c
;
d
;
Christophe Sandt
e
;
i
;
Paul Dumas
e
;
i
;
Guy Matzen
f
;
Emmanuel Vé
;
ron
f
;
Jean-Philippe Haymann
b
;
c
;
Olivier Traxer
g
;
Pierre Conort
h
;
Michel Daudon
b
;
c
关键词:
Randall's plaque
;
Kidney stone
;
Environmental scanning electron microscopy
;
Synchrotron radiation-μFourier Transform Infra Red spectroscopy
;
Sodium hydrogen urate monohydrate
;
Calcium phosphate apatite
刊名:Comptes Rendus Chimie
出版年:2016
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