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内部出版物
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:0.0239879 秒
1.
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
;
E
van
geline 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
2.
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone
作者:
Fatiha Bendadi
;
Tom J. de Koning
;
Gepke Visser
;
Hubertus C.M.T. Prinsen
;
Monique G.M. de Sain
;
N
;
a Verhoeven-Duif
;
Gerben Sinnema
;
Francjan
J.
van
Spronsen
;
Peter M.
van
Hasselt
关键词:
NTBC
;
2-[2-nitro-4-trifluoromethylbenzoyl]-1
;
3-cyclohexanedione
刊名:The Journal of Pediatrics
出版年:February, 2014
3.
Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria
作者:
Rianne Jahja
;
MSc
1
;
jahjar@umcg.nl" class="auth_mail
;
Stephan C.J. Huijbregts
;
PhD
2
;
Leo M.J. de Sonneville
;
PhD
2
;
Jaap J.
van
der Meere
;
PhD
3
;
Francjan
J.
van
Spronsen
;
MD
1
关键词:
FL
;
Flanker
;
Phe
;
Phenylalanine
;
Phe
;
Tyr
;
Phenylalanine
;
tyrosine
;
PKU
;
Phenylketonuria
;
PU
;
Pursuit
;
SAD
;
Sustained Attention-Dots
;
SSV
;
Shifting Attentional Set-Visual
;
Tyr
;
Tyrosine
刊名:The Journal of Pediatrics
出版年:April, 2014
4.
Phenylketonuria Scientific Review Conference: State of the science and future research needs
作者:
Kathryn M. Camp
a
;
1
;
2
;
campkm@od.nih.gov" class="auth_mail
;
Melissa A. Parisi
b
;
1
;
parisima@mail.nih.gov" class="auth_mail
;
Phyllis B. Acosta
c
;
pja1933@gmail.com" class="auth_mail
;
Gerard T. Berry
d
;
gerard.berry@childrens.harvard.edu" class="auth_mail
;
Deborah A. Bilder
e
;
deborah.bilder@hsc.utah.edu" class="auth_mail
;
Nenad Blau
f
;
g
;
nenad.blau@med.uni-heidelberg.de" class="auth_mail
;
Olaf A. Bodamer
h
;
obodamer@med.miami.edu" class="auth_mail
;
Jeffrey P. Brosco
i
;
jbrosco@med.miami.edu" class="auth_mail
;
Christine S. Brown
j
;
christine.brown@npkua.org" class="auth_mail
;
Alberto B. Burlina
k
;
alberto.burlina@unipd.it" class="auth_mail
;
Barbara K. Burton
l
;
bburton@luriechildrens.org" class="auth_mail
;
Christine S. Chang
m
;
christine.chang@ahrq.hhs.gov" class="auth_mail
;
Paul M. Coates
a
;
coatesp@od.nih.gov" class="auth_mail
;
Amy C. Cunningham
n
;
acunnin@tulane.edu" class="auth_mail
;
Steven F. Dobrowolski
o
;
dobrowolskis@upmc.edu" class="auth_mail
;
John H. Ferguson
p
;
jferg@helix.nih.gov" class="auth_mail
;
Thomas D. Franklin
j
;
tom.franklin@npkua.org" class="auth_mail
;
Dianne M. Frazier
q
;
dianne_frazier@med.unc.edu" class="auth_mail
;
Dorothy K. Grange
r
;
grange_d@kids.wustl.edu" class="auth_mail
;
Carol L. Greene
s
;
cgreene@peds.umaryland.edu" class="auth_mail
;
Stephen C. Groft
p
;
stephen.groft@nih.gov" class="auth_mail
;
Cary O. Harding
t
;
hardingc@ohsu.edu" class="auth_mail
;
R. Rodney Howell
h
;
rhowell@miami.edu" class="auth_mail
;
Kathleen L. Huntington
t
;
huntingt@ohsu.edu" class="auth_mail
;
Henrietta D. Hyatt-Knorr
p
;
henrietta.hyatt-knorr@nih.gov" class="auth_mail
;
Indira P. Jevaji
u
;
indira.jevaji@cms.hhs.gov" class="auth_mail
;
Harvey L. Levy
d
;
harvey.levy@childrens.harvard.edu" class="auth_mail
;
Uta Lichter-Konecki
v
;
ulichter@cnmc.org" class="auth_mail
;
Mary Lou Lindegren
w
;
marylou.lindegren@
van
derbilt.edu" class="auth_mail
;
Michele A. Lloyd-Puryear
a
;
2
;
lloydpuryearma@od.nih.gov" class="auth_mail
;
Kimberlee Matalon
x
;
kmatalon@uh.edu" class="auth_mail
;
Anita MacDonald
y
;
anita.macdonald@bch.nhs.uk" class="auth_mail
;
Melissa L. McPheeters
z
;
melissa.mcpheeters@
van
derbilt.edu" class="auth_mail
;
John J. Mitchell
aa
;
john.mitchell@muhc.mcgill.ca" class="auth_mail
;
Shideh Mofidi
ab
;
shideh_mofidi@nymc.edu" class="auth_mail
;
Kathryn D. Moseley
ac
;
kmoseley@usc.edu" class="auth_mail
;
Christine M. Mueller
ad
;
christine.mueller@nih.gov" class="auth_mail
;
Andrew E. Mulberg
ae
;
andrew.mulberg@fda.hhs.gov" class="auth_mail
;
Lata S. Nerurkar
p
;
lnerurkar@gmail.com" class="auth_mail
;
Beth N. Ogata
af
;
bogata@uw.edu" class="auth_mail
;
Anne R. Pariser
ae
;
anne.pariser@fda.hhs.gov" class="auth_mail
;
Suyash Prasad
ag
;
sprasad@bmrn.com" class="auth_mail
;
Gabriella Pridjian
n
;
pridjian@tulane.edu" class="auth_mail
;
Sonja A. Rasmussen
ah
;
skr9@cdc.gov" class="auth_mail
;
Uma M. Reddy
b
;
reddyu@mail.nih.gov" class="auth_mail
;
Frances J. Rohr
ai
;
frances.rohr@childrens.harvard.edu" class="auth_mail
;
Rani H. Singh
c
;
rsingh@emory.edu" class="auth_mail
;
Sandra M. Sirrs
aj
;
sandra.sirrs@vch.ca" class="auth_mail
;
Stephanie E. Stremer
ak
;
sstremer@yahoo.com" class="auth_mail
;
Danilo A. Tagle
al
;
danilo.tagle@nih.gov" class="auth_mail
;
Susan M. Thompson
am
;
sue.thompson@health.nsw.gov.au" class="auth_mail
;
Tiina K. Urv
b
;
urvtiin@mail.nih.gov" class="auth_mail
;
Jeanine R. Utz
an
;
jutz1@fairview.org" class="auth_mail
;
Francjan
van
Spronsen
ao
;
f.j.
van
.spronsen@umcg.nl" class="auth_mail
;
Jerry Vockley
o
;
vockleyg@upmc.edu" class="auth_mail
;
Susan E. Waisbren
d
;
susan.waisbren@childrens.harvard.edu" class="auth_mail
;
Linda S. Weglicki
ap
;
weglickils@mail.nih.gov" class="auth_mail
;
Desiré
;
e A. White
aq
;
dawhite@wustl.edu" class="auth_mail
;
Chester B. Whitley
an
;
whitley@umn.edu" class="auth_mail
;
Benjamin S. Wilfond
ar
;
benjamin.wilfond@seattlechildrens.org" class="auth_mail
;
Steven Yannicelli
as
;
steven.yannicelli@nutricia.com" class="auth_mail
;
Justin M. Young
at
;
jmichaelyoung@yahoo.com" class="auth_mail
关键词:
AAV
;
adeno-associated virus
;
ACMG
;
American College of Medical Genetics and Genomics
;
AHRQ
;
Agency for Healthcare Research and Quality
;
BH4
;
tetrahydrobiopterin
;
BMD
;
bone mineral density
;
CDE
;
Common Data Element
;
CHD
;
congenital heart disease
;
CNS
;
central nervous system
;
COA
;
clinical outcome assessment
;
DXA
;
dual-energy X-ray absorptiometry
;
DHA
;
docosahexaenoic acid
;
DHPR
;
dihydropteridine reductase
;
DRI
;
Dietary Reference Intake
;
EPC
;
Evidence-based Practice Center
;
FDA
;
U.S. Food and Drug
刊名:Molecular Genetics and Metabolism
出版年:June 2014
5.
Dietary treatment of glycogen storage disease type Ia: Uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?
作者:
Terry G.J. Derks
a
;
b
;
t.g.j.derks@umcg.nl
;
Danielle H. Martens
a
;
b
;
Christiaan P. Sentner
a
;
b
;
Margreet
van
Rijn
a
;
Foekje de Boer
a
;
G. Peter A. Smit
a
;
b
;
Francjan
J.
van
Spronsen
a
;
b
关键词:
Glycogen storage disease
;
Cornstarch
;
Nutrition
刊名:Molecular Genetics and Metabolism
出版年:2013
6.
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
作者:
Maureen Cleary
;
Friedrich Trefz
;
Ania C. Muntau
;
Fran莽ois Feillet
;
Francjan
J.
van
Spronsen
;
Alberto Burlina
;
Amaya B茅langer-Quintana
;
Maria Gi偶ewska
;
Christoph Gasteyger
;
Esther Bettiol
;
Nenad Blau
;
Anita MacDonald
关键词:
BH4
;
6R-tetrahydrobiopterin
;
ECT
;
early and continuously treated
;
HPA
;
hyperphenylalaninemia
;
IDC
;
index of dietary control
;
IQ
;
intelligence quotient
;
LNAA
;
large neutral amino acid
;
PAH
;
phenylalanine hydroxylase
;
PKU
;
phenylketonuria
;
SD
;
standard deviation
;
SEE
;
standard error of the estimate
;
Tyr
;
tyrosine
;
WISC
;
Wechsler Intelligence Scale for Children
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
7.
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
作者:
Martijn J. de Groot
a
;
b
;
m.j.de.groot@umcg.nl
;
Marieke Hoeksma
a
;
b
;
Margreet
van
Rijn
c
;
Riemer H.J.A. Slart
d
;
Francjan
J.
van
Spronsen
a
;
b
关键词:
PKU
;
phenylketonuria
;
Phe
;
phenylalanine
;
BMD
;
bone mineral density
;
DXA
;
dual-energy X-ray absorptiometry
刊名:Molecular Genetics and Metabolism
出版年:2012
8.
Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome
作者:
Jú
;
lio C. Rocha
a
;
b
;
julio.rocha@insa.min-saude.pt
;
Francjan
J.
van
Spronsen
c
;
f.j.
van
.spronsen@umcg.nl
;
Manuela F. Almeida
a
;
manuela.almeida@insa.min-saude.pt
;
Gabriela Soares
a
;
gabriela.soares@insa.min-saude.pt
;
Dulce Quelhas
a
;
dulce.quelhas@insa.min-saude.pt
;
Elisabete Ramos
d
;
e
;
eliramos@med.up.pt
;
Joã
;
o T. Guimarã
;
es
b
;
e
;
f
;
jtguimar@med.up.pt
;
Nuno Borges
g
;
nunoborges.1@gmail.com
关键词:
BMI
;
body mass index
;
CRP
;
c-reactive protein
;
HDL-c
;
high density lipoprotein-cholesterol
;
HOMA-IR
;
homeostasis model assessment of insulin resistance
;
IDF
;
international diabetes federation
;
LDL-c
;
low density lipoprotein-cholesterol
;
MetSyn
;
metabolic
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings
作者:
Karen
;
Anjema
a
;
Margreet
;
van
Rijn
a
;
Paul H.
;
Verkerk
b
;
Johannes G.M.
;
Burgerhof
c
;
M. Rebecca
;
Heiner-Fokkema
d
;
Francjan
J.
;
van
Spronsen
a
;
;
f.j.
van
.spronsen@bkk.umcg.nl
关键词:
Phenylketonuria
;
PKU
;
Phenylalanine
;
Behavior
;
Mood swings
;
Mood
刊名:Molecular Genetics and Metabolism
出版年:2011
10.
Diurnal variations in blood phenylalanine of PKU infants under different feeding regimes
作者:
Margreet
van
Rijn
a
;
m.
van
.rijn@umcg.nl
;
Marieke Hoeksma
a
;
Pieter J.J. Sauer
b
;
Pim Modderman
c
;
Dirk-Jan Reijngoud
c
;
d
;
Francjan
J.
van
Spronsen
a
;
d
关键词:
PKU
;
phenylketonuria
;
PHE
;
phenylalanine
;
TYR
;
tyrosine
刊名:Molecular Genetics and Metabolism
出版年:2011
1
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