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内部出版物
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
1.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing
作者:
E. Ciara
a
;
1
;
D. Rokicki
b
;
1
;
d.rokicki@ipczd.pl" class="auth_mail" title="E-mail the corresponding author
;
P. Halat
a
;
1
;
A. Karkucińska-Więckowska
c
;
1
;
D. Piekutowska-Abramczuk
a
;
J
. Mayr
d
;
J
. Trubicka
a
;
T. Szymańska-Dębińska
c
;
M. Pronicki
c
;
M. Pa
j
dowska
e
;
M. Dudzińska
f
;
M. Giżewska
g
;
M. Kra
j
ewska-Walasek
a
;
J
.
Książyk
b
;
W. Sperl
d
;
R. Płoski
h
;
E. Pronicka
a
;
b
关键词:
Pyruvate dehydrogenase complex deficiency
;
PDHc
;
PDHA1
;
DLD
;
Novel pathogenic variants
;
Whole-exome sequencing
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
MON-PP099: Growth and Nutrition in Children with Cerebral Palsy on Home Enteral Nutrition Programme (2 Years Observation)
作者:
A. Żyła
;
M. Sibilska
;
M. Danko
;
K. Popińska
;
A. Sobolewska
;
O. Świeboda
;
D. Śnieć
;
J
.
Książyk
刊名:Clinical Nutrition
出版年:2015
1
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2016年(1)
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