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内部出版物
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
1.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
作者:
Kristi Bentler
a
;
Shaohui Zhai
b
;
Sara A. Elsbecker
c
;
Georgianne L. Arnold
d
;
Barbara K. Burton
e
;
Jerry Vockley
d
;
Cynthia A. Cameron
b
;
Sally J. Hiner
b
;
Mathew J. Edick
b
;
Susan A. Berry
c
;
1
;
2
;
berry002@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
On behalf of the Inborn Errors of Metabolism CollaborativeJanet Thomas
g
;
Melinda Dodge
g
;
Rani Singh
h
;
Sangeetha Lakshman
h
;
Katie Coakley
h
;
Adry
a
Stembridge
h
;
Alvaro Serrano Russi
i
;
Emily Phillips
i
;
Barbara Burton
j
;
Clare Edano
j
;
Sheela Shrestha
j
;
George Hoganson
;
Lauren Dwyer
k
;
Bryan Hainline
l
;
Susan Romie
l
;
Sarah Hainline
l
;
Alexander Asamoah
m
;
Kara Goodin
m
;
Cecilia Rajakaruna
m
;
Kelly Jackson
m
;
Ada Hamosh
n
;
Hilary Vernon
n
;
Nancy Smith
n
;
Ayesha Ahmad
o
;
Sue Lipinski
o
;
Gerald Feldman
p
;
Susan Berry
q
;
Sara Elsbecker
q
;
Kristi Bentler
r
;
Esperanza Font-Montgomery
s
;
Dawn Peck
s
;
Loren D.M. Pena
t
;
Dwight D. Koeberl
t
;
Yong-hui Jiang
t
;
Priya S. Kishnani
t
;
William Rizzo
u
;
Machelle Dawson
u
;
Nancy Ambrose
u
;
Paul Levy
v
;
David Kronn
w
;
Chin-to Fong
x
;
Kristin D&rsquo
;
Aco
x
;
Theresa Hart
x
;
Richard Erbe
y
;
Melissa Samons
y
;
Nancy Leslie
z
;
Racheal Powers
z
;
Dennis Bartholomew
aa
;
Melanie Goff
aa
;
Sandy vanCalcar
ab
;
Joyanna Hansen
ab
;
Georgianne Arnold
ac
;
Jerry Vockley
ac
;
Cate Walsh-Vockley
ad
;
William Rhead
ad
;
David Dimmock
ad
;
Paula Engelking
ad
;
Cassie Bird
ad
;
Ashley Swan
ad
;
Jessica Scott Schwoerer
ae
;
Sonja Henry
ae
;
TaraChandra Narumanchi
af
;
Marybeth Hummel
af
;
Jennie Wilkins
af
;
Laura Davis-Keppen
ag
;
Quinn Stein
ag
;
Rebecca Loman
ag
;
Cynthia Cameron
ah
;
Mathew J. Edick
ah
;
Sally J. Hiner
ah
;
Kaitlin Justice
ah
;
Shaohui Zhai
ah
关键词:
Medium-chain acyl-coenzyme A dehydrogenase deficiency
;
MCAD
;
Octanoylcarnitine
;
ACADM
;
Newborn screening
;
Inborn error of metabolism
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach
作者:
Rani H. Singh
a
;
b
;
rsingh@emory.edu" class="auth_mail" title="E-mail the corresponding author
;
Amy C. Cunningham
c
;
acunnin@tulane.edu" class="auth_mail" title="E-mail the corresponding author
;
Shideh Mofidi
d
;
shideh.mofidi@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Teresa D. Douglas
a
;
teresadd@alum.emory.edu" class="auth_mail" title="E-mail the corresponding author
;
Dianne M. Frazier
e
;
Dianne_frazier@med.unc.edu" class="auth_mail" title="E-mail the corresponding author
;
Debra Geary Hook
f
;
debrahook@sbcglobal.net" class="auth_mail" title="E-mail the corresponding author
;
Laura Jeffers
g
;
Jefferl2@ccf.org" class="auth_mail" title="E-mail the corresponding author
;
Helen McCune
h
;
mccunh@shands.ufl.edu" class="auth_mail" title="E-mail the corresponding author
;
Kathryn D. Moseley
i
;
kmoseley@usc.edu" class="auth_mail" title="E-mail the corresponding author
;
Beth Ogata
j
;
bogata@uw.edu" class="auth_mail" title="E-mail the corresponding author
;
Surekha Pendyal
e
;
surekha_pendyal@med.unc.edu" class="auth_mail" title="E-mail the corresponding author
;
Jill Skrabal
k
;
Jskrabal@unmc.edu" class="auth_mail" title="E-mail the corresponding author
;
Patricia L. Splett
l
;
splet004@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
Adry
a
Stembridge
a
;
astembr@emory.edu" class="auth_mail" title="E-mail the corresponding author
;
Ann Wessel
m
;
ann.wessel@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
;
Frances Rohr
m
;
frances.rohr@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
ACMG
;
American College of Medical Genetics
;
AGREE II
;
Appraisal of Guidelines for Research and Evaluation
;
BH4
;
tetrahydrobiopterin
;
BMD
;
bone mineral disease
;
DRI
;
dietary reference intake
;
DXA
;
dual x-ray absorptiometry
;
EF
;
executive function
;
FFM
;
fat-free mass
;
GMDI
;
Genetic Metabolic Dietitians International
;
IMD
;
inherited metabolic disorder
;
LNAA
;
large neutral amino acid
;
MeSH
;
medical subject heading
;
MPKU
;
maternal PKU syndrome
;
MRI
;
magnetic resonance imaging
;
MSUD
;
Maple Syrup Urine
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach
作者:
Dianne M. Frazier
a
;
dfrazier@med.unc.edu" class="auth_mail
;
Courtney Allgeier
b
;
Caroline Homer
c
;
Barbara J. Marriage
b
;
Beth Ogata
d
;
Frances Rohr
e
;
Patricia L. Splett
f
;
g
;
Adry
a
Stembridge
h
;
Rani H. Singh
h
关键词:
Allo-ILE
;
alloisoleucine
;
BCAA
;
branched-chain amino acids
;
BCKA
;
branched-chain 伪-ketoacids
;
BCKD
;
branched-chain 伪-ketoacid dehydrogenase
;
CoA
;
coenzyme A
;
DRI
;
dietary reference intake
;
GMDI
;
Genetic Metabolic Dietitians International
;
HRSA
;
health resources and health administration
;
ILE
;
isoleucine
;
IMD
;
inherited metabolic disorders
;
Kcal
;
kilocalories
;
LEU
;
leucine
;
MeSH
;
medical subject heading
;
MS/MS
;
tandem mass spectrometry
;
MSUD
;
maple syrup urine disease
;
MySQL
;
a structured query l
刊名:Molecular Genetics and Metabolism
出版年:July 2014
1
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作者(3)
按出版年细分(3)
2027年及以后(1)
2016年(2)
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