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SpringerLink电子期刊(3)
GSW全文库(1)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
12
条
1.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
作者:
Lori-Anne P. Schillaci
a
;
1
;
Carol L. Greene
b
;
Erin Strovel
b
;
Jessica Rispoli-Joines
b
;
Elaine Spector
c
;
Michael Woontner
c
;
Gunter Scharer
c
;
Gregory M. Enns
d
;
Renata Gallagher
e
;
Arthur B. Zinn
a
;
g
;
Shawn
E.
McCandless
a
;
f
;
g
;
Charles L. Hoppel
h
;
i
;
Stephen I. Goodman
c
;
Jirair K. Bedoyan
a
;
f
;
g
;
1
;
jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author
关键词:
GCDH
;
Glutaryl-CoA dehydrogenase
;
Glutaric aciduria
;
Low excretor
;
Newborn screen
;
Urinary acylcarnitines
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
作者:
Sandesh C.S. Nagamani
a
;
Nagamani@bcm.edu" class="auth_mail" title="E-mail the corresponding author
;
George A. Diaz
b
;
William Rhead
c
;
Susan A. Berry
d
;
Cynthia Le Mons
e
;
Uta Lichter-Konecki
f
;
James Bartley
g
;
Annette Feigenbaum
h
;
Andreas Schulze
i
;
Nicola Longo
j
;
William Berquist
k
;
Renata Gallagher
l
;
Dennis Bartholomew
m
;
Cary O. Harding
n
;
Mark S. Korson
o
;
Shawn
E.
McCandless
p
;
Wendy Smith
q
;
Jerry Vockley
r
;
David Kronn
s
;
Robert Zori
t
;
Stephen Cederbaum
u
;
J. Lawrence Merritt II
v
;
Derek Wong
u
;
Dion F. Coakley
w
;
Bruce F. Scharschmidt
w
;
Klara Dickinson
x
;
Miguel Marino
n
;
Brendan H. Lee
a
;
Masoud Mokhtarani
w
关键词:
GPB
;
glycerol phenylbutyrate
;
NaPBA
;
sodium phenylbutyrate
;
HRQoL
;
health-related quality of life
;
UCD
;
urea cycle disorder
刊名:Molecular Genetics and Metabolism
出版年:2015
3.
Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes
作者:
Susan A. Berry
a
;
berry002@umn.edu" class="auth_mail
;
Uta Lichter-Konecki
b
;
George A. Diaz
c
;
Shawn
E.
McCandless
d
;
William Rhead
e
;
Wendy Smith
f
;
Cynthia LeMons
g
;
Sandesh C.S. Nagamani
h
;
Dion F. Coakley
i
;
Masoud Mokhtarani
i
;
Bruce F. Scharschmidt
i
;
Brendan Lee
h
关键词:
ASL
;
argininosuccinate lyase
;
ASS
;
argininosuccinate synthase
;
AUC0&ndash
;
24
;
24
;
hour area under the curve
;
GPB
;
glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate)
;
also referred to as HPN-100 or RAVICTI®
) ;
NaPBA
;
sodium phenylbutyrate
;
OTC
;
ornithine transcarbamylase
;
PAA
;
phenylacetic acid
;
PAGN
;
phenylacetylglutamine
;
PBA
;
phenylbutyric acid
;
PK
;
pharmacokinetic
;
UCD
;
urea cycle disorder
刊名:Molecular Genetics and Metabolism
出版年:May 2014
4.
Sequencing from dried blood spots in infants with ¡°false positive¡± newborn screen for MCAD deficiency
作者:
Shawn
E.
McCandless
a
;
b
;
shawn
.
mccandless
@case.edu
;
Ram Chandrasekar
c
;
ram.chandrasekar@odh.ohio.gov
;
Sharon Linard
c
;
sharon.linard@odh.ohio.gov
;
Sandra Kikano
a
;
sandra.kikano@case.edu
;
Lorrie Rice
a
;
lorrie.rice@case.edu
关键词:
Medium-chain acyl-CoA dehydrogenase deficiency
;
Fatty acid oxidation disorders
;
Newborn screening
;
Dried blood spots
刊名:Molecular Genetics and Metabolism
出版年:2013
5.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate
作者:
Wendy Smith
;
MD
1
;
SMITHW@mmc.org
;
George A. Diaz
;
MD
;
PhD
2
;
Uta Lichter-Konecki
;
MD
;
PhD
3
;
Susan A. Berry
;
MD
4
;
Cary O. Harding
;
MD
5
;
Shawn
E.
McCandless
;
MD
6
;
Cindy LeMons
7
;
Joe Mauney
;
MS
8
;
Klara Dickinson
;
BS
9
;
Dion F. Coakley
;
PharmD
9
;
Tristen Moors
;
MS
9
;
Masoud Mokhtarani
;
MD
9
;
Bruce F. Scharschmidt
;
MD
9
;
Brendan Lee
;
MD
;
PhD
10
;
11
关键词:
ASA
;
Argininosuccinic acid
;
ASL
;
Argininosuccinate lyase
;
ASS
;
Argininosuccinate synthetase
;
AUC0-24
;
24-hour area under the curve
;
DSMB
;
Data and safety monitoring board
;
G tube
;
Gastrostomy tube
;
GPB
;
Glycerol phenylbutyrate
;
NaPBA
;
Sodium phenylbutyrat
刊名:The Journal of Pediatrics
出版年:2013
6.
Design and implementation of the first randomized controlled trial of coenzyme Q
10
in children with primary mitochondrial diseases
作者:
Peter W. Stacpoole
a
;
pws@ufl.edu
;
Ton.J. deGrauw
b
;
1
;
Annette S. Feigenbaum
c
;
2
;
Charles Hoppel
d
;
Douglas S. Kerr
d
;
Shawn
E.
McCandless
d
;
Michael V. Miles
b
;
Brian H. Robinson
c
;
Peter H. Tang
b
关键词:
AE
;
adverse event
;
ATP6
;
adenosine triphosphate synthase subunit 6
;
CIDEM
;
Center for Inherited Disorders of Energy Metabolism
;
CoQ10
;
coenzyme Q10
;
CPEO
;
chronic progressive external ophthalmoplegia
;
DCC
;
data coordinating center
;
DSMB
;
data safety monit
刊名:Mitochondrion
出版年:2012
7.
A primer on expanded newborn screening by tandem mass spectrometry
作者:
Shawn
E.
McCandless
;
MD
shawn
.
mccandless
@case.edu
刊名:Primary Care: Clinics in Office Practice
出版年:2004
8.
Betaine-Homocysteine Methyltransferase-2: cDNA Cloning, Gene Sequence, Physical Mapping, and Expression of the Human and Mouse Genes
作者:
Chadwick
;
Lisa H.
;
McCandless
;
Shawn
E.
;
Silverman
;
Gregory L.
;
Schwartz
;
Stuart
;
Westaway
;
David
;
et. al.
刊名:Genomics
出版年:2000
1
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