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内部出版物
SpringerLink电子期刊(13)
Elsevier电子期刊(14)
在“
Elsevier电子期刊
”中,
命中:
14
条,耗时:0.0199904 秒
在所有数据库中总计命中:
27
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.
Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
作者:
Carla E.M. Hollak
;
Stephan vom Dahl
;
Johannes M.F.G. Aerts
;
Nadia Belmatoug
;
Bruno
Bembi
;
Yossi Cohen
;
Tanya Collin-Histed
;
Patrick Deegan
;
Laura van Dussen
;
Pilar Giraldo
;
Eugen Mengel
;
Helen Michela
关键词:
Gaucher disease
;
Cerezyme
;
Imiglucerase
;
Vesivirus
;
Europe
刊名:Blood Cells, Molecules, and Diseases
出版年:2010
5.
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
6.
Recommendations on the diagnosis and management of Niemann-Pick disease type C
作者:
The NP-C Guidelines Working Group
;
James E. Wraith
;
Matthias R. Baumgartner
;
Bruno
Bembi
;
Athanasios Covanis
;
Thierry Levade
;
Eugen Mengel
;
Mercè
;
Pineda
;
Fré
;
dé
;
ric Sedel
;
Meral Topç
关键词:
Niemann-Pick disease type C
;
Diagnosis
;
Screening
;
Treatment
;
Guidelines
;
Monitoring
刊名:Molecular Genetics and Metabolism
出版年:2009
7.
Challenges in adolescents: Growth and scoliosis
作者:
Bruno
Bembi
刊名:Clinical Therapeutics
出版年:2010
8.
Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease
作者:
Carla E.M. Hollak
;
Johannes M.F.G. Aerts
;
Nadia Belmatoug
;
Bruno
Bembi
;
Olaf Bodamer
;
Domenica Cappellini
;
Tanya Collin-Histed
;
Timothy M. Cox
;
Patrick Deegan
;
Pilar Giraldo
;
Derralynn Hughes
;
Elena L
刊名:Blood Cells, Molecules, and Diseases
出版年:2010
9.
112. Safety monitoring of miglustat in patients with Niemann-Pick disease type C
作者:
Ed Wraith
;
Michael Beck
;
Jackie Imrie
;
Merce Pineda
;
Barbara Schwierin
;
Bruno
Bembi
关键词:
Pyridox(am)ine 5′
;
-phosphate oxidase
;
PNPO
;
Pyridoxal 5′
;
-phosphate
;
PLP
;
Neonatal convulsions
;
Burst-suppression
;
Vanillactate
;
Hyperglycinemia
刊名:Molecular Genetics and Metabolism
出版年:2008
10.
13. Enzyme replacement therapy with Alglucosidase alfa in juvenile-adult glycogenosis type 2 patients
作者:
Bruno
Bembi
;
Sabrina Ravaglia
;
Federica Edith Pisa
;
Giovanni Ciana
;
Agata Fiumara
;
Marco Confalonieri
;
Rossella Parini
;
Miriam Rigoldi
;
Arrigo Moglia
;
Alfredo Costa
;
Cesare Danesino
;
Maria Gabriela Pi
刊名:Molecular Genetics and Metabolism
出版年:2009
1
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