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内部出版物
SpringerLink电子期刊(4)
Elsevier电子期刊(9)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:0.0439813 秒
在所有数据库中总计命中:
14
条
1.
Neurodevelopmental Outcome
and
Treatment Efficacy of Benzoate
and
Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
作者:
Kendra J. Bjoraker
;
PhD
1
;
&lowast
;
;
Michael A. Swanson
;
PhD
1
;
&lowast
;
;
Curtis R. Coughlin II
;
MS
;
MBe
1
;
John
Christodoulou
;
MB
;
BS
;
PhD
2
;
Ee S. Tan
;
MB
;
BS
2
;
Mark Fergeson
;
MD
3
;
Sarah Dyack
;
MD
4
;
Ayesha Ahmad
;
MD
5
;
Marisa W. Friederich
;
PhD
1
;
Elaine B. Spector
;
PhD
1
;
Geralyn Creadon-Swindell
;
BS
1
;
M. Antoinette Hodge
;
DPsych
6
;
Sommer Gaughan
;
RD
1
;
Casey Burns
;
RD
1
;
Johan L.K. Van Hove
;
MD
;
PhD
1
;
Johan.Vanhove@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
AE
;
Age equivalent
;
BASC
;
Behavior Assessment System for Children
;
DQ
;
Developmental quotient
;
Mullen scales
;
Mullen Scales of
Earl
y Learning
;
NKH
;
Nonketotic hyperglycinemia
;
NMDA
;
N-methyl-D-aspartate
;
WPPSI
;
Wechsler Preschool
and
Primary Scale of Intelligence
刊名:The Journal of Pediatrics
出版年:2016
2.
Efficacy
and
safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
作者:
Dr Bernd C Schwahn
;
MD
a
;
h
;
&dagger
;
;
bernd.schwahn@cmft.nhs.uk" class="auth_mail" title="E-mail the corresponding author
;
Prof Francjan J Van Spronsen
;
MD
b
;
&dagger
;
;
Abdel A Belaidi
;
PhD
c
;
e
;
Stephen Bowhay
;
BSc
a
;
Prof
John
Christodoulou
;
PhD
f
;
Terry G Derks
;
MD
b
;
Prof Julia B Hennermann
;
MD
g
;
Elisabeth Jameson
;
MBBCh
h
;
Kai Kö
;
nig
;
MD
i
;
Tracy L McGregor
;
MD
j
;
Esperanza Font-Montgomery
;
MD
k
;
José
;
A Santamaria-Araujo
;
PhD
l
;
Saikat Santra
;
MBBCh
m
;
Mamta Vaidya
;
MD
n
;
Anne Vierzig
;
MD
d
;
Evangeline Wassmer
;
MD
m
;
Ilona Weis
;
MD
o
;
Flora Y Wong
;
PhD
p
;
Alex Veldman
;
MD
l
;
p
;
&dagger
;
;
Prof Gü
;
nter Schwarz
;
PhD
c
;
l
;
&dagger
;
刊名:The Lancet
出版年:2015
3.
Evaluating the validity of volume-based
and
surface-based brain image registration for developmental cognitive neuroscience studies in children 4 to 11 years of age
作者:
Satrajit S. Ghosh
;
Sita Kakunoori
;
Jean Augustinack
;
Alfonso Nieto-Castanon
;
Ioulia Kovelman
;
Nadine Gaab
;
Joanna A.
Christodoulou
;
Christina Triantafyllou
;
John
D.E. Gabrieli
;
Bruce Fischl
刊名:NeuroImage
出版年:2010
4.
Genotype
and
earl
y development in Rett syndrome: The value of international data
作者:
Helen Leonard
;
Hannah Moore
;
Mary Carey
;
Susan Fyfe
;
Sonj Hall
;
Laila Robertson
;
Xi Ru Wu
;
Xinhua Bao
;
Hong Pan
;
John
Christodoulou
;
Sarah Williamson
;
Nick de Klerk
关键词:
Rett syndrome
;
MECP2
;
Phenotype
;
Earl
y development
;
International
;
Internet
;
Database
刊名:Brain
and
Development
出版年:2005
5.
Seizures in Rett syndrome: An overview from a one-year calendar study
作者:
Le Jian
;
Lakshmi Nagarajan
;
Nicholas de Klerk
;
David Ravine
;
John
Christodoulou
;
Helen Leonard
关键词:
Rett syndrome
;
Seizure rate
;
Epilepsy
;
MECP2
mutations
;
Earl
y development
;
Clinical severity
;
Anti-epileptic drugs
刊名:European Journal of Paediatric Neurology
出版年:2007
6.
Mutation of C20orf7
作者:
Canny Sugiana
;
David J. Pagliarini
;
Matthew McKenzie
;
Denise M. Kirby
;
Renato Salemi
;
Khaled K. Abu-Amero
;
Hans-Henrik M. Dahl
;
Wendy M. Hutchison
;
Katherine A. Vascotto
;
Stacey M. Smith
;
Robert F. Newbold
;
John
Christodoulou
;
Sarah Calvo
;
Vamsi K. Mootha
;
Michael T. Ryan
;
David R. Thorburn
刊名:The American Journal of Human Genetics
出版年:2008
7.
The effects of large neutral amino acid supplements in PKU: An MRS
and
neuropsychological study
作者:
Suzanne Schindeler
;
Suparna Ghosh-Jerath
;
Susan Thompson
;
Antonella Rocca
;
Pamela Joy
;
Allan Kemp
;
Caroline Rae
;
Kathryn Green
;
Bridget Wilcken
;
John
Christodoulou
关键词:
Phenylketonuria
;
Brain–
;
plasma barrier
;
Magnetic resonance spectroscopy
;
Large neutral amino acids
;
Amino acid transport
刊名:Molecular Genetics
and
Metabolism
出版年:2007
8.
Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience
作者:
John
J. Mitchell
;
Bridget Wilcken
;
Ian Alex
and
er
;
Carolyn Ellaway
;
Helen O’
;
Grady
;
Veronica Wiley
;
John
Earl
and
John
Christodoulou
刊名:Molecular Genetics
and
Metabolism
出版年:2005
9.
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid
β
-oxidation defects: phenotype/metabolite correlations
作者:
Giak Sim
;
Keow
;
Carpenter
;
Kevin
;
Hammond
;
Judith
;
Christodoulou
;
John
;
Wilcken
;
Bridget
关键词:
Newborn screening
;
Electrospray t
and
em mass spectrometry
;
Hepatic encephalopathy
;
Cardiomyopathy
;
Sudden death
刊名:Molecular Genetics
and
Metabolism
出版年:2002
1
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