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Wiley电子期刊(1)
SpringerLink电子期刊(3)
NATURE电子期刊(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:
13
条
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
;
Adrya 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.
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.
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
作者:
Ruthann B. Pfau
;
Devon Lamb Thrush
;
Elizabeth Hamelberg
;
Dennis
Bartholomew
;
Shaun Botes
;
Matthew Pastore
;
Christopher Tan
;
Daniela del Gaudio
;
Julie M. Gastier-Foster
;
Caroline Astbury
关键词:
Cell cycle proteins
;
Array-based comparative genomic hybridization
;
Consanguinity
;
Cytogenetic analysis
;
Genes
;
Recessive
;
MCPH1 protein
;
Human
;
Microcephaly
;
Primary autosomal recessive 1
;
Premature chromosome condensation syndrome
刊名:European Journal of Medical Genetics
出版年:November, 2013
4.
Recurrent pancreatitis in ornithine transcarbamylase deficiency
作者:
Carlos E. Prada
;
Ajay Kaul
;
Robert J. Hopkin
;
Kimberley I. Page
;
Jaimie D. Nathan
;
Dennis
W.
Bartholomew
;
Mitchell B. Cohen
;
James E. Heubi
;
Nancy D. Leslie
;
T. Andrew Burrow
关键词:
OTC
;
ornithine transcarbamylase
;
TPN
;
total parenteral nutrition
;
ERCP
;
endoscopic retrograde cholangiography&ndash
;
pancreatography
;
ETC
;
electron transport chain
;
PA
;
propionic acidemia
;
MMA
;
methylmalonic acidemia
;
spf
;
sparse-fur
;
PSTI
;
pancreatic secr
刊名:Molecular Genetics and Metabolism
出版年:2012
5.
Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities
作者:
Blake C. Ballif
;
Aaron Theisen
;
Jill A. Rosenfeld
;
Ryan N. Traylor
;
Julie Gastier-Foster
;
Devon Lamb Thrush
;
Caroline Astbury
;
Dennis
Bartholomew
;
Kim L. McBride
;
Robert E. Pyatt
;
Kate Shane
;
Wendy E.
刊名:The American Journal of Human Genetics
出版年:2010
6.
Docosahexaenoic Acid and Amino Acid Contents in Pasteurized Donor Milk are Low for Preterm Infants
作者:
Christina J. Valentine
;
Georgia Morrow
;
Soledad Fern
;
ez
;
Parul Gulati
;
Dennis
Bartholomew
;
Don Long
;
Stephen E. Welty
;
Ardythe L. Morrow
;
Lynette K. Rogers
刊名:The Journal of Pediatrics
出版年:2010
7.
Sample introduction in gas chromatography using a coiled wire filament
作者:
Tai V. Truong
;
Aaron N. Nackos
;
Jacolin A. Murray
;
Jon A. Kimball
;
Jason E. Hawkes
;
Donald J. Harvey
;
H.
Dennis
Tolley
;
Richard A. Robison
;
Calvin H.
Bartholomew
;
Milton L. Lee
关键词:
Sample introduction
;
Gas chromatography
;
Solvent-less injection
;
Coiled wire filament
;
Solid phase micro-extraction
;
Bacillus
endospores
;
Fatty acid methyl esters
;
Polycyclic aromatic hydrocarbons
刊名:Journal of Chromatography A
出版年:2009
8.
Therapeutic Vaccination with a Trivalent T Cell Receptor Peptide Vaccine Induces Peptide-specific IL-10-secreting T Cells, Restores Deficient Foxp3 Expression, and Induces Bystander Immunomodulation i
作者:
Arthur V
;
enbark
;
Richard
Bartholomew
;
Halina Offner
;
Dennis
Bourdette
刊名:Clinical Immunology
出版年:2007
1
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