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内部出版物
CNKI学位论文(6)
知网期刊论文(2)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Efficacy of Miglustat in Niemann-Pick C disease: A single centre experience
作者:
Virginia Maria Ginocchio
;
Adele D'Amico
;
Enrico Bertini
;
Ferdin
;
o Ceravolo
;
Andrea
Dardis
;
Daniela Verrigni
;
Bruno Bembi
;
Carlo Dionisi-Vici
;
Federica Deodato
关键词:
NPC
;
Niemann&ndash
;
Pick disease type C
;
CS
;
composite score
;
BS
;
body surface
;
LE/L
;
late endosomes/lysosomes
;
ER
;
endoplasmic reticulum
刊名:Molecular Genetics and Metabolism
出版年:2013
2.
Clinical follow-up in a group of Gaucher type I patients switching enzyme replacement therapy from imiglucerase to velaglucerase
作者:
Bruno Bembi
;
Annalisa Sechi
;
Andrea
Dardis
;
Laura Deroma
;
Daniela Macor
;
Giulia Liva
;
Giovanni Ciana
刊名:Molecular Genetics and Metabolism
出版年:2013
3.
First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene
作者:
Silvia Paciotti
;
Emanuele Persichetti
;
Severo Pagliardini
;
Marta Deganuto
;
Camillo Rosano
;
Chiara Balducci
;
Michela Codini
;
Mirella Filocamo
;
Anna Rita Menghini
;
Veronica Pagliardini
;
Silvio Pasqui
;
Bruno Bembi
;
Andrea
Dardis
;
Tommaso Beccari
关键词:
LSD
;
lysosomal storage disease
;
ERT
;
enzyme replacement therapy
;
DBS
;
dried blood spots
;
GBA
;
acid ¦Â-glucosidase
;
GAA
;
acid ¦Á-glucosidase
;
GLA
;
acid ¦Á-galactosidase
;
GD
;
Gaucher disease
;
IDUA
;
¦Á-l-iduronidase
;
MPS
;
mucopolysaccharidosis
刊名:Clinica Chimica Acta
出版年:2012
4.
Interpretation and management of INR results: A case history based survey in 13 countries
作者:
Ann-Helen Kristoffersen
;
Geir Thue
;
Eva Ajzner
;
Neree Claes
;
Andrea
Rita Horvath
;
Rina Leonetti
;
Kaja Kallion
;
Dianne Kitchen
;
Steve Kitchen
;
Marge Kutt
;
Piet Meijer
;
Mathias Muller
;
Elisabeth Nilsson
;
Carmen Perich
;
Inger Plum
;
Dunja Rogic
;
Rosy Tirimacco
;
Felix J.M. van der Meer
;
Joseph Watine
;
Sverre S
;
berg
;
et al.
关键词:
INR
;
(prothrombin time)
;
international normalized ratio
;
VKA
;
vitamin K antagonists
;
TTR
;
time in therapeutic range
;
GP
;
general practitioner
刊名:Thrombosis Research
出版年:2012
5.
Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C
作者:
Maja Di Rocco
;
MD
a
;
majadirocco@ospedale-gaslini.ge.it
;
Andrea
Dardis
;
PhD
b
;
Annalisa Madeo
;
MD
a
;
Rita Barone
;
MD
c
;
Agata Fiumara
;
MD
c
刊名:Pediatric Neurology
出版年:2012
6.
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme
作者:
Andrea
Dardis
;
Mirella Filocamo
;
Serena Grossi
;
Giovanni Ciana
;
Silvana Franceschetti
;
Silvia Dominissini
;
Guido Rubboli
;
Maya Di Rocco
;
Bruno Bembi
关键词:
Myoclonus
;
β
;
-Glucosidase
;
LIMP-2 deficiency
刊名:Molecular Genetics and Metabolism
出版年:2009
7.
36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement
作者:
Andrea
Dardis
;
Mirella Filocamo
;
Serena Grossi
;
Giovanni Ciana
;
Silvia Dominissini
;
Guido Rubboli
;
Maja Di Rocco
;
Bruno Bembi
刊名:Molecular Genetics and Metabolism
出版年:2009
8.
Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase
作者:
Lin
;
Chin Jia
;
Dardis
;
Andrea
;
Wijesuriya
;
Sujeewa D.
;
Abdullah
;
Mohamed A.
;
Casella
;
Samuel J.
;
et. al.
刊名:Molecular Genetics and Metabolism
出版年:2003
1
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2013年(2)
2012年(3)
2009年(2)
2003年(1)
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