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内部出版物
CNKI学位论文(11)
知网期刊论文(4)
在“
Elsevier电子期刊
”中,
命中:
18
条,耗时:0.0309878 秒
在所有数据库中总计命中:
15
条
1.
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C聽
Di
sease
作者:
Maja
Di
Rocco
;
MD
majadirocco
@ospedale-gaslini.ge.it" class="auth_mail" title="E-mail the correspon
di
ng author
刊名:Pe
di
atric Neurology
出版年:2015
2.
Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency
作者:
Anthony G. Quinn
;
Barbara Burton
;
Patrick Deegan
;
Maja
Di
Rocco
;
Greg Enns
;
Ornella Guardamagna
;
Simon Horslen
;
G.K. Hovingh
;
Steve Lobritto
;
Vera Malinova
;
Valerie McLin
;
Julian Raiman
;
Saikat Santra
;
Reena Sharma
;
Jolanta Sykut-Cegielska
;
Vassili Valayannopoulos
;
Chester B. Whitley
;
Stephen Eckert
;
Eugene Schneider
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Severe and rapid
di
sease course in the natural history of infants with lysosomal acid lipase deficiency
作者:
Simon A. Jones
;
Donna Bernstein
;
Martin Bialer
;
Anil Dhawan
;
Chris Hendriksz
;
Chester B. Whitley
;
Maryam Banikazemi
;
Alicia Chan
;
Ornella Guardamagna
;
Julian Raiman
;
Iman Gamal
;
Laila Selim
;
Stephen Cederbaum
;
Maja
Di
Rocco
;
Jennifer Domm
;
Gregory Enns
;
David Finegold
;
Jay Gargus
;
Osama Zaki
;
Stephen Eckert
;
Eugene Schneider
;
et al.
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
4.
Early Miglustat Therapy in Infantile Niemann-Pick
Di
sease Type C
作者:
Maja
Di
Rocco
;
MD
a
;
majadirocco
@ospedale-gaslini.ge.it
;
Andrea Dar
di
s
;
PhD
b
;
Annalisa Madeo
;
MD
a
;
Rita Barone
;
MD
c
;
Agata Fiumara
;
MD
c
刊名:Pe
di
atric Neurology
出版年:2012
5.
Cholesteryl Ester Storage
Di
sease (CESD) due to novel mutations in the LIPA
作者:
Livia Pisciotta
;
Raffaele Fresa
;
Antonella Bellocchio
;
Elisabetta Pino
;
Virgilia Guido
;
Alfredo Cantafora
;
Maja
Di
Rocco
;
Sebastiano Cal
;
ra
;
Stefano Bertolini
关键词:
Cholesteryl Ester Storage
Di
sease (CESD)
;
Lysosomal acid lipase (LAL) deficiency
;
LIPA
gene mutations
;
Hepatosplenomegaly
;
Mixed hyperlipidemia
;
Hypoalphalipoproteinemia
刊名:Molecular Genetics and Metabolism
出版年:2009
6.
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
作者:
Derek E. Neilson
;
Mark D. Adams
;
Caitlin M.D. Orr
;
Deborah K. Schelling
;
Robert M. Eiben
;
Douglas S. Kerr
;
Jane Anderson
;
Alex
;
er G. Bassuk
;
Ann M. Bye
;
Anne-Marie Childs
;
Antonia Clarke
;
Yanick J. Crow
;
Maja
Di
Rocco
;
Christian Dohna-Schwake
;
Gregor Dueckers
;
Alfonso E. Fasano
;
Artemis D. Gika
;
Di
m
刊名:The American Journal of Human Genetics
出版年:2009
7.
Clinical and genetic characterization of Chanarin–Dorfman syndrome
作者:
Clau
di
o Bruno
;
Enrico Bertini
;
Maja
Di
Rocco
;
Denise Cass
;
rini
;
Giuseppe Ruffa
;
Teresa De Toni
;
Marco Seri
;
Marco Spada
;
Giovanni Li Volti
;
Adele D’
;
Amico
;
Federica Trucco
;
Marcello Arca
;
Carlo
关键词:
Chanarin–
;
Dorfman syndrome
;
Neutral lipid storage
di
sease
;
Ichthyosis
;
Jordans’
;
bo
di
es
;
Myopathy
刊名:Biochemical and Biophysical Research Communications
出版年:2008
8.
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage
di
sease
作者:
Maja
Di
Rocco
;
Maria Grazia Calevo
;
Marina Taro’
;
Daniela Melis
;
Anna Elsa Maria Allegri
;
Giancarlo Parenti
关键词:
Glycogen storage
di
sease type I
;
Hepatocellular adenoma
;
Metabolic balance
刊名:Molecular Genetics and Metabolism
出版年:2008
9.
36. Biochemical and molecular fin
di
ngs in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement
作者:
Andrea Dar
di
s
;
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
10.
Di
sease severity scoring systems for Gaucher
di
sease
作者:
Maja
Di
Rocco
刊名:Clinical Therapeutics
出版年:2009
1
2
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