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CNKI学位论文(60)
知网期刊论文(126)
在“
SpringerLink电子期刊
”中,
命中:
18
条,耗时:0.104947 秒
在所有数据库中总计命中:
186
条
1.
Po
ss
ible me
c
hani
s
m
s
for
s
en
s
orineural hearing lo
ss
and deafne
ss
in patient
s
with propioni
c
a
c
idemia
作者:
S
.
C
.
Grünert
;
I. Bodi
;
K. E. Odening
关键词:
Propioni
c
a
c
idemia
;
Propioni
c
a
c
iduria
;
Hearing lo
ss
;
Long QT
s
yndrome
;
S
en
s
orineural deafne
ss
;
KvLQT1
;
K
C
NE1
;
Voltage
;
gated pota
ss
ium
c
hannel
;
Inner ear
刊名:Orphanet Journal of Rare Di
s
ea
s
e
s
出版年:2017
2.
C
y
c
lin D1 gene amplifi
c
ation i
s
highly homogeneou
s
in brea
s
t
c
an
c
er
作者:
Eike Burandt
;
Martin
Grünert
;
Annette Lebeau
;
Matthia
s
C
ho
sc
hzi
c
k…
关键词:
C
y
c
lin D1
;
Heterogeneity
;
Brea
s
t
c
an
c
er
;
FI
S
H
;
Heterogeneity
;
TMA
刊名:Brea
s
t
C
an
c
er
出版年:2016
3.
Medium-
c
hain a
c
yl-CoA dehydrogena
s
e defi
c
ien
c
y a
ss
o
c
iated with a novel
s
pli
c
e mutation in the ACADM gene mi
ss
ed by newborn
sc
reening
作者:
S
arah
C
.
Grünert
;
A. Wehrle
;
P. Villavi
c
en
c
io-Lorini
;
E. Lau
sc
h…
关键词:
A
C
ADM
;
Mi
ss
pli
c
ing
;
Newborn
sc
reening
;
Fal
s
e negative
刊名:BM
C
Medi
c
al Geneti
cs
出版年:2015
4.
C
lini
c
al and geneti
c
al heterogeneity of late-on
s
et multiple a
c
yl-
c
oenzyme A dehydrogena
s
e defi
c
ien
c
y
作者:
S
arah
C
Grünert
关键词:
Glutari
c
a
c
iduria type 2
;
Lipid
s
torage myopathy
;
Mu
sc
le weakne
ss
;
Metaboli
c
de
c
ompen
s
ation
;
Riboflavin
;
ETFDH
;
ETFA
;
ETFB
刊名:Orphanet Journal of Rare Di
s
ea
s
e
s
出版年:2014
5.
3-methyl
c
rotonyl-CoA
c
arboxyla
s
e defi
c
ien
c
y: Clini
c
al, bio
c
hemi
c
al, enzymati
c
and mole
c
ular
s
tudie
s
in 88 individual
s
作者:
S
arah
C
Grünert
(1) (2)
Martin Stu
c
ki (1) (3)
Raphael J Mor
sc
her (1)
Terttu Suormala (1) (4)
Celine Bürer (1)
Patri
c
ie Burda (1)
Ern
s
t Chri
s
ten
s
en (5)
Can Fi
c
i
c
ioglu (6)
Jürgen Herwig (7)
Stefan K?lker (8)
Dorothea M?
s
linger (9)
Eli
s
abetta Pa
s
quini (10)
René Santer (11)
K Otfried S
c
hwab (2)
Bridget Wil
c
ken (12)
Brian Fowler (1) (4)
Wyatt W Yue (13)
Matthia
s
R Baumgartner (1) (3)
关键词:3 ;
Methyl
c
rotonyl
;
C
oA
c
arboxyla
s
e
;
M
C
CC1
;
M
C
CC2
;
Biotin
;
Inborn error
;
Organi
c
a
c
iduria
;
Newborn
sc
reening
刊名:Orphanet Journal of Rare Di
s
ea
s
e
s
出版年:2012
6.
C
ro
ss
-
s
e
c
tional ob
s
ervational
s
tudy of 208 patient
s
with non-
c
la
ss
i
c
al urea
c
y
c
le di
s
order
s
作者:
C
orinne M. Rüegger (1) (2)
Martin Lindner (3)
Diana Ballhau
s
en (4)
Matthia
s
R. Baumgartner (1) (2)
Skadi Beblo (5)
Anibh Da
s
(6)
Matthia
s
Gaut
sc
hi (7)
E
s
ther M. Glahn (3)
Sarah C.
Grünert
(8)
Julia Hennermann (9)
Mi
c
hel Ho
c
huli (10)
Martina Huemer (11)
Daniela Karall (12)
Stefan K?lker (3)
Robin H. La
c
hmann (13)
Amelie Lotz-Havla (14)
Dorothea M?
s
linger (15)
Jean-Mar
c
Nuoffer (16) (7)
Barbara Ple
c
ko (17) (18) (2)
Frank Rut
sc
h (19)
René Santer (20)
Ute Spiekerkoetter (21) (8)
Chri
s
tian Staufner (3)
Tamar Stri
c
ker (1) (2)
Frit
s
A. Wijburg (22)
Monique William
s
(23)
Peter Burgard (3)
Johanne
s
H?berle (1) (2)
刊名:Journal of Inherited Metaboli
c
Di
s
ea
s
e
出版年:2014
7.
Ornithine tran
sc
arbamyla
s
e defi
c
ien
c
y
c
ombined with type 1 diabete
s
mellitu
s
- a
c
hallenge in
c
lini
c
al and dietary management
作者:
S
arah
C
Grünert
(1)
Pablo Villavi
c
en
c
io-Lorini (1)
Bendi
c
ht Wermuth (2)
Willy Lehnert (1)
J?rn Oliver Sa
ss
(3)
K Otfried S
c
hwab (1)
关键词:
Ornithine tran
sc
arbamyla
s
e defi
c
ien
c
y
;
Ornithine
c
arbamoyltran
s
fera
s
e defi
c
ien
c
y
;
OT
C
defi
c
ien
c
y
;
Urea
c
y
c
le di
s
order
;
In
s
ulin
;
dependent diabete
s
mellitu
s
;
Hyperammonemia
;
In
s
ulin
刊名:Journal of Diabete
s
and Metaboli
c
Di
s
order
s
出版年:2013
8.
Propioni
c
a
c
idemia:
c
lini
c
al
c
our
s
e and out
c
ome in 55 pediatri
c
and adole
sc
ent patient
s
作者:
S
arah
C
Grünert
(1)
Stephanie Müllerleile (2)
Linda De Silva (2)
Mi
c
hael Barth (1)
Melanie Walter (2)
Ker
s
tin Walter (1)
Thoma
s
Mei
ss
ner (5)
Martin Lindner (6)
Regina En
s
enauer (7)
René Santer (8)
Olaf A Bodamer (10) (9)
Matthia
s
R Baumgartner (11)
Mi
c
haela Brunner-Krainz (12)
Daniela Karall (13)
Claudia Haa
s
e (14) (15)
Ina Knerr (16)
Thor
s
ten Marquardt (17)
Julia B Hennermann (18)
Robert Steinfeld (19)
Skadi Beblo (20)
Han
s
-Georg Ko
c
h (21)
Va
ss
iliki Kon
s
tantopoulou (9)
Sabine S
c
holl-Bürgi (13)
Agne
s
van Teeffelen-Heithoff (17)
Terttu Suormala (22)
Wolfgang Sperl (23)
Jan P Krau
s
(24)
Andrea Superti-Furga (1) (4)
Karl Otfried S
c
hwab (1)
J?rn Oliver Sa
ss
(2) (3)
关键词:
Propioni
c
a
c
idemia
;
Bran
c
hed
;
c
hain amino a
c
id
s
;
Out
c
ome
;
Quality of life
;
C
lini
c
al
c
our
s
e
;
Phy
s
i
c
al development
;
Neuro
c
ognitive development
;
IQ
;
Long
;
term
c
ompli
c
ation
s
;
Propionyl
;
c
oenzyme A
c
arboxyla
s
e defi
c
ien
c
y
刊名:Orphanet Journal of Rare Di
s
ea
s
e
s
出版年:2013
9.
Diurnal variation of phenylalanine and tyro
s
ine
c
on
c
entration
s
in adult patient
s
with phenylketonuria:
s
ub
c
utaneou
s
mi
c
rodialy
s
i
s
i
s
no adequate tool for the determination of amino a
c
id
c
on
c
entration
s
作者:
S
arah
C
Grünert
(1)
Corinna M Bri
c
hta (1) (2)
Andrea
s
Kreb
s
(1)
Han
s
-Willi Clement (2)
Reinhold Rauh (2)
Chri
s
tian Flei
sc
hhaker (2)
Klau
s
Hennighau
s
en (2)
J?rn Oliver Sa
ss
(1) (3)
K Otfried S
c
hwab (1)
关键词:
Phenylketonuria
;
Phenylalanine
;
Tyro
s
ine
;
Diurnal variation
;
Diet
;
Phy
s
i
c
al exer
c
i
s
e
;
Mi
c
rodialy
s
i
s
;
Dried blood
s
pot
;
Ergometry
刊名:Nutrition Journal
出版年:2013
10.
C
lini
c
al and neuro
c
ognitive out
c
ome in
s
ymptomati
c
i
s
ovaleri
c
a
c
idemia
作者:
S
arah
C
Grünert
(1)
Udo Wendel (2)
Martin Lindner (3)
Mi
c
hael Lei
c
h
s
enring (4)
K Otfried S
c
hwab (1)
Jerry Vo
c
kley (5)
Willy Lehnert (1)
Regina En
s
enauer (6)
关键词:
i
s
ovaleri
c
a
c
idemia
;
s
ymptomati
c
;
neuro
c
ognitive out
c
ome
;
mortality
刊名:Orphanet Journal of Rare Di
s
ea
s
e
s
出版年:2012
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