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内部出版物
知网期刊论文(1)
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Treatment with pentosan polysulphate in patients with mucopolysaccharidosis type I: Results from an open la
b
el, randomized, monocentric phase 2 study
作者:
Julia
B
.
Hennermann
a
;
Seyfullah Goekce
a
;
Alexander Solyom
b
;
c
;
Eugen Mengel
a
;
Edward H. Schuchman
d
;
Calogera M. Simonaro
d
刊名:Molecular Genetics and Meta
b
olism
出版年:2016
2.
Efficacy and safety of cyclic pyranopterin monophosphate su
b
stitution in severe moly
b
denum cofactor deficiency type A: a prospective cohort study
作者:
Dr
B
ernd C Schwahn
;
MD
a
;
h
;
&dagger
;
;
b
ernd.schwahn@cmft.nhs.uk" class="auth_mail" title="E-mail the corresponding author
;
Prof Francjan J Van Spronsen
;
MD
b
;
&dagger
;
;
A
b
del A Belaidi
;
PhD
c
;
e
;
Stephen
B
owhay
;
B
Sc
a
;
Prof John Christodoulou
;
PhD
f
;
Terry G Derks
;
MD
b
;
Prof
Julia
B
Hennermann
;
MD
g
;
Elisa
b
eth Jameson
;
M
B
BCh
h
;
Kai Kö
;
nig
;
MD
i
;
Tracy L McGregor
;
MD
j
;
Esperanza Font-Montgomery
;
MD
k
;
José
;
A Santamaria-Araujo
;
PhD
l
;
Saikat Santra
;
M
B
BCh
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.
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
作者:
Yin-Hsiu Chien
;
Ans van der Ploeg
;
Simon A. Jones
;
B
arry Byrne
;
Ashok Vellodi
;
Nancy Leslie
;
Eugen Mengel
;
Suma Shankar
;
Pranoot Tanpai
b
oon
;
David W. Stockton
;
Julia
B
.
Hennermann
;
Zsuzsanna Devecseri
;
Judy Kempf
;
Joan Keutzer
;
Priya S. Kishnani
刊名:Molecular Genetics and Meta
b
olism
出版年:Fe
b
ruary, 2014
4.
Long-term treatment with tetrahydro
b
iopterin in phenylketonuria: Treatment strategies and prediction of long-term responders
作者:
Julia
B
.
Hennermann
;
julia
.
hennermann
@charite.de
;
Sylvia Roloff
;
Christine Ge
b
auer
;
B
ar
b
ara Vetter
;
Anna
b
el von Arnim-Baas
;
E
b
erhard Mö
;
nch
关键词:
B
H4
;
tetrahydro
b
iopterin
;
HPA
;
hyperphenylalaninemia
;
PAH
;
phenylalanine hydroxylase
;
Phe
;
phenylalanine
;
PKU
;
phenylketonuria
;
Tyr
;
tyrosine
刊名:Molecular Genetics and Meta
b
olism
出版年:2012
5.
Diagnosis, classification, and genetics of phenylketonuria and tetrahydro
b
iopterin (BH4) deficiencies
作者:
Nenad
B
lau
a
;
b
;
c
;
nenad.
b
lau@kispi.uzh.ch
;
Julia
B
.
Hennermann
d
;
julia
.
hennermann
@charite.de
;
Ulrich Langen
b
eck
e
;
ulrich.langen
b
eck@gmx.net
;
Uta Lichter-Konecki
f
;
ulichter@childrensnational.org
关键词:
B
H4
;
tetrahydro
b
iopterin
;
CNS
;
central nervous system
;
DHPR
;
dihydropteridine reductase
;
D
B
S
;
dried
b
lood spot
;
HPA
;
hyperphenylalaninemia
;
KOUT
;
1st order rate of meta
b
olic disposal
;
MHP
;
mild HPA
;
PAH
;
phenylalanine hydroxylase
;
P
B
W
;
percent
b
ody weight
刊名:Molecular Genetics and Meta
b
olism
出版年:2011
6.
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3
b
study
作者:
B
ar
b
ara K. Burton
a
;
bb
urton@childrensmemorial.org"" rel=""nofollow
;
Maria Nowacka
b
;
Julia
B
.
Hennermann
c
;
Mark Lipson
d
;
Dorothy K. Grange
e
;
Anupam Chakrapani
f
;
Friedrich Trefz
g
;
Alex Doren
b
aum
h
;
Michael Imperiale
i
;
Sun Sook Kim
i
;
Paul M. Fernhoff
j
;
1
关键词:
6R-
B
H
b>4
b>
;
Clinical trial
;
Phenylalanine
;
Phenylketonuria
;
Sapropterin
;
Tetrahydro
b
iopterin
刊名:Molecular Genetics and Meta
b
olism
出版年:2011
7.
Long-term treatment with tetrahydro
b
iopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
作者:
Julia
B
.
Hennermann
;
Christoph
B
ü
;
hrer
;
Nenad
B
lau
;
B
ar
b
ara Vetter and E
b
erhard Mö
;
nch
刊名:Molecular Genetics and Meta
b
olism
出版年:2005
1
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