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SpringerLink电子期刊(4)
Elsevier电子期刊(5)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.1219127 秒
在所有数据库中总计命中:
9
条
1.
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
作者:
Blanka
;
Stiburkova
a
;
;
bstib@lf1.cuni.cz
;
Jakub
;
Krijt
a
;
Petr
;
Vyletal
a
;
;
b
;
Josef
;
Bartl
a
;
Eva
;
Gerhatova
c
;
Martin
;
Korinek
d
;
Ivan
;
Sebesta
a
;
;
e
关键词:
Xanthinuria
;
Xanthine dehydrogenase/oxidase
;
Hypouricemia
刊名:Clinica Chimica Acta
出版年:2012
2.
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child
作者:
Makiko Nakamura
a
;
Yamaguchi Yuichiro
b
;
Jö
;
rn Oliver Sass
c
;
d
;
Matsumura Tomohiro
e
;
Karl Otfried Schwab
c
;
Nishino Takeshi
e
;
f
;
Hosoya Tatsuo
b
;
Kimiyoshi Ichida
a
;
b
;
ichida@toyaku.ac.jp
关键词:
Genetic deficiency
;
Hypouricemia
;
Xanthine dehydrogenase
;
Xanthinuria
刊名:Clinica Chimica Acta
出版年:2012
3.
Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria
作者:
Hava Peretz
;
Meirav Shtauber Naamati
;
David Levartovsky
;
Ayala Lagziel
;
Esther Shani
;
Ivona Horn
;
Hanna Shalev
;
Daniel L
;
au
关键词:
Classical xanthinuria type II
;
XDH and AO deficiency
;
Muscle pain
;
Allopurinol
loading
test
;
Homozygosity mapping
;
C-terminal domain of HMCS
;
Jewish patient
;
Bedouin-Arab patient
刊名:Molecular Genetics and Metabolism
出版年:2007
4.
The significance of reduced respiratory chain enzyme activities: Clinical, biochemical and radiological associations
作者:
S.R. Mordekar
;
P. Guthrie
;
J.R. Bonham
;
S.E. Olpin
;
I. Hargreaves
;
P.S. Baxter
关键词:
Mitochondrial disorders
;
Children
;
Respiratory chain enzymes
;
Investigations
刊名:European Journal of Paediatric Neurology
出版年:2006
5.
Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: Conceptual changes in a living-donor program
作者:
Mureo Kasahara
;
Tetsuya Kiuchi
;
Kenji Uryuhara
;
Yasuhiro Ogura
;
Koji Takakura
;
Hiroto Egawa
;
Katsuhiro Asonuma
;
Shinji Uemoto
;
Yukihiro Inomata
;
Koichi Tanaka
关键词:
Diverticulum
;
esophagus
;
duplication
刊名:Journal of Pediatric Surgery
出版年:1998
1
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