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知网期刊论文(1)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
4
条
1.
Co-administration of the pharmacological chaperone AT2221 with a proprietary recombinant human acid alfa-glucosidase leads to greater plasma exposure and substrate reduction compared to alglucosidase alfa
作者:
Richie Khanna
;
Su Xu
;
Deborah Hilliard
;
Yi Lun
;
Adriane Schilling
;
Rebecca Soska
;
Anju Nair
;
Kate Chang
;
Jessie Feng
;
Michelle Frascella
;
Anadina Garcia
;
Kimberly Pendino
;
Franklin Johnson
;
Elfrida
R.
Benjamin
;
Russell Gotschall
;
Hung Do
;
Kenneth J. Valenzano
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Glucosylceramide and glucosylsphingosine quantitation by liquid chromotography-tandem mass spectrometry to enable studies of neuronopathic Gaucher disease
作者:
Rick Hamler
;
Nastry Brignol
;
Sean Morrison
;
Chang H. Hui
;
Leo Dungan
;
Robert E. Boyd
;
Sean W. Clark
;
Richie Khanna
;
Br
;
on W. Wustman
;
John F. Flanagan
;
Kenneth J. Valenzano
;
David L. Lockhart
;
Elfrida
R.
Benjamin
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Strategy to assess the effect of duvoglustat co-administered with alglucosidase alfa infusion on the immune response to enzyme replacement therapy for Pompe disease
作者:
Elfrida
R.
Benjamin
;
Xiaoyang Wu
;
M. Cecilia Della Valle
;
Eric Sjoberg
;
Sheela Sitaraman
;
Anthony Stevens
;
Nestor Gomez
;
Evan Katz
;
Farhana Pruthi
;
Jeffry S. Kelley
;
Br
;
on Wustman
;
Kenneth J. Valenzano
;
Barry J. Byrne
;
Carrolee Barlow
;
David J. Lockhart
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
4.
Phase 3 FACETS study of migalastat HCl for Fabry disease: post hoc GLA mutation-based identification of subjects likely to show a drug effect
作者:
Carrolee Barlow
;
Jeff Castelli
;
Elfrida
Benjamin
;
Julie Yu
;
Nicholas France
;
Elizabeth Ludington
;
David J. Lockhart
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
Liquid chromotography-tandem mass spectrometry determination of AT2220 in rodent plasma and tissues
作者:
Leo B. Dungan
;
Hui H. Chang
;
Rick Hamler
;
Nastry Brignol
;
Su Xu
;
Richie Khanna
;
John J. Flanagan
;
David J. Lockhart
;
Kenneth J. Valenzano
;
Elfrida
R.
Benjamin
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines
作者:
Nastry Brignol
;
Kate Chang
;
Rick Hamler
;
Adriane E. Schilling
;
Richie Khanna
;
David J. Lockhart
;
Sean W. Clark
;
Elfrida
R.
Benjamin
刊名:Molecular Genetics and Metabolism
出版年:2012
7.
13. A pharmacogenetic approach to pharmacological chaperonetherapy for Fabry disease
作者:
Elfrida
Benjamin
;
Xiaoyang Wu
;
Evan Katz
;
Kirsten Mascioli
;
Kate Chang
;
David Lockhart
;
Kenneth Valenzano
刊名:Molecular Genetics and Metabolism
出版年:2010
8.
113. Identification of Fabry disease-causing mutations that are responsive to the pharmacological chaperone AT1001
作者:
Xiaoyang Wu
;
Kirsten Mascioli
;
Evan Katz
;
Hui-Hwa Chang
;
Sang-Hoon Shin
;
Stefanie Kluepfel-Stahl
;
Gary Murray
;
Raphael Schiffmann
;
Kenneth Valenzano
;
David Lockhart
;
Elfrida
Benjamin
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
9.
50. The pharmacological chaperone AT1001 and treatment of Fabry disease
作者:
Richie Khanna
;
Elfrida
R.
Benjamin
;
Rebecca Soska
;
Yi Lun
;
Sheela A. Sitaraman
;
David J. Palling
;
David J. Lockhart
;
Kenneth J. Valenzano
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.
22. Initial experience with intrathecal recombinant human α-
l-iduronidase for spinal cord compression in two mucopolysaccharidosis I patients
作者:
Hung Do
;
John Flanagan
;
Xiaoyang Wu
;
Allan Powe
;
Richie Khana
;
Rebecca Soska
;
Wei Liang
;
Elfrida
Benjamin
;
David Palling
;
Sheela Sitaraman
;
Br
;
on Wustman
;
Ken Valenzano
;
David Lockhart
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
1
2
按检索点细分(12)
作者(12)
按出版年细分(12)
2027年及以后(4)
2016年(1)
2012年(1)
2010年(1)
2008年(3)
2006年(1)
2001年(1)
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