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内部出版物
知网期刊论文(1)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:0.0119661 秒
在所有数据库中总计命中:
1
条
1.
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
作者:
Michelle T. Lieu
;
Bobby G. Ng
;
Jeffrey S. Rush
;
Tim Wood
;
Monica J. Basehore
;
Madhuri Hegde
;
Richard C. Chang
;
Jose
E.
Abdenur
;
Hudson H. Freeze
;
Raymond Y. Wang
关键词:
CTP
;
cytosine triphosphate
;
EDTA
;
ethylenediaminetetraacetic acid
;
HEPES
;
4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
2.
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of ¦Á-Dystroglycan
作者:
Keren?J. Carss
;
Elizabeth Stevens
;
A.?Reghan Foley
;
Sebahattin Cirak
;
Moniek Riemersma
;
Silvia Torelli
;
Alex
;
er Hoischen
;
Tobias Willer
;
Monique van?Scherpenzeel
;
Steven?A. Moore
;
Sonia Messina
;
Enrico Bertini
;
Carsten?G. B?nnemann
;
Jose
?E.
Abdenur
;
Carla?M. Grosmann
;
Akanchha Kesari
;
Jaya Punetha
;
Ros Quinlivan
;
Leigh?B. Waddell
;
Helen?K. Young
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
3.
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
作者:
John?F. Staropoli
;
Amel Karaa
;
Elaine?T. Lim
;
Andrew Kirby
;
Naser Elbalalesy
;
Stephen?G. Romansky
;
Karen?B. Leydiker
;
Scott?H. Coppel
;
Rosemary Barone
;
Winnie Xin
;
Marcy?E. MacDonald
;
Jose
?E.
Abdenur
;
Mark?J. Daly
;
Katherine?B. Sims
;
Susan?L. Cotman
刊名:The American Journal of Human Genetics
出版年:2012
4.
Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry
作者:
Silvia Tortorelli
;
Coleman T. Turgeon
;
James S. Lim
;
Steve Baumgart
;
Debra-Lynn Day-Salvatore
;
Jose
Abdenur
;
Jonathan A. Bernstein
;
Fred Lorey
;
Uta Lichter-Konecki
;
Devin Oglesbee
;
Kimiyo Raymond
;
Dietrich Matern
;
Lisa Schimmenti
;
Piero Rinaldo
;
Dimitar K. Gavrilov
刊名:The Journal of Pediatrics
出版年:2010
5.
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation
作者:
Rebecca L. Puckett
;
Steven A. Moore
;
Thomas L. Winder
;
Tobias Willer
;
Stephen G. Romansky
;
Kelly King Covault
;
Kevin P. Campbell
;
Jose
E.
Abdenur
关键词:
α
;
-Dystroglycan
;
Dystroglycanopathy
;
Fukutin (FKTN)
;
Limb-girdle muscular dystrophy (LGMD)
;
Fukuyama congenital muscular dystrophy (FCMD)
刊名:Neuromuscular Disorders
出版年:2009
6.
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II
作者:
Raymond Y. Wang
;
Elizabeth Jane Cambray-Forker
;
Kirk Ohanian
;
David S. Karlin
;
Kelly K. Covault
;
Philip H. Schwartz
;
Jose
E.
Abdenur
关键词:
Mucopolysaccharidosis
;
Hurler syndrome
;
Hunter syndrome
;
Enzyme replacement therapy
;
Stem cell transplant
;
Magnetic resonance imaging
;
Central nervous system
;
Outcomes
刊名:Molecular Genetics and Metabolism
出版年:2009
7.
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle
作者:
Ariel Brautbar
;
Jing Wang
;
Jose
E.
Abdenur
;
Richard C. Chang
;
Janet A. Thomas
;
Theresa A. Grebe
;
Cynthia Lim
;
Shao-Wen Weng
;
Brett H. Graham
;
Lee-Jun Wong
关键词:
Mitochondrial disease
;
Leigh syndrome
;
MELAS
;
mtDNA
;
13513G>
A ;
13514A>
G
刊名:Molecular Genetics and Metabolism
出版年:2008
8.
147. Early treatment initiation for MPS reduces severity of brain imaging abnormalities
作者:
Raymond Wang
;
Elizabeth Jane
;
Cambray-Forker
;
Jose
Abdenur
刊名:Molecular Genetics and Metabolism
出版年:2009
9.
Aromatic
l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis
作者:
Jose
E.
Abdenur
;
Nico Abeling
;
Norma Specola
;
Lia Jorge
;
Andrea B. Schenone
;
Arno C. van Cruchten and Nestor A. Chamoles
关键词:
Aromatic
l
-aminoacid decarboxylase
;
AADC
;
Organic acids
;
Hypoglycemia
;
Neurotransmitters
;
Vanillactic
;
Vanylpyruvic
;
N
-Acetyl-vanilalanine
;
N
-Acetyl-tyrosine
刊名:Molecular Genetics and Metabolism
出版年:2006
10.
Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus
作者:
Maria Mylene Abad
;
Philip D. Cotter
;
Flora H. Fodor
;
Signe Larson
;
Fredda Ginsberg-Fellner
;
Robert J. Desnick
;
Jose
E.
Abdenur
刊名:Metabolism
出版年:1997
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