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Wiley电子期刊(3)
SpringerLink电子期刊(12)
Elsevier电子期刊(61)
在“
Elsevier电子期刊
”中,
命中:
61
条,耗时:小于0.01 秒
在所有数据库中总计命中:
76
条
1.
Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease
作者:
Christine I. Ha
;
Ankit K. Desai
;
Justin Waterfield
;
Zoheb B. Kazi
;
Stephanie L. Austin
;
Edward H. Bossen
;
Priya
S.
Kishnani
;
Anne F. Buckley
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
A newborn screening dilemma: when to treat Pompe disease with c.-32-13T >/; G IVS splice site mutation
作者:
Lauren A Bailey
;
Mugdha Rairikar
;
Ankit Desai
;
Zoheb Kazi
;
Laura Case
;
Priya
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2017
3.
Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy
作者:
Lauren A. Bailey
;
Mari Mori
;
Deeksha Bali
;
Anne F. Buckley
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
Long-term immune tolerance of infantile Pompe disease with entrenched immune responses to ERT using a bortezomib-based regimen
作者:
Kathryn L. Berrier
;
Zoheb B. Kazi
;
Sean N. Prater
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
5.
Enzyme replacement therapy rate escalation in infantile onset Pompe disease
作者:
Crista K. Walters
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
6.
Differentially expressed proteins in infantile Pompe disease: prediction of patients likely to mount an immune response to enzyme replacement therapy
作者:
Zoheb B. Kazi
;
Ankit K. Desai
;
Mari Mori
;
Karanjeet Dua
;
J. Will Thompson
;
Joseph Lucas
;
Arthur Moseley
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
7.
Electrocardiograph findings when screening for initiation of oral substrate reduction therapy with eliglustat for treatment of Gaucher disease
作者:
Stephanie DeArmey
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
8.
Cross-reactive immunologic material positive infantile Ρompe disease: Characterization of immune responses in patient treated with enzyme replacement therapy
作者:
Ankit K. Desai
;
Zoheb B. Kazi
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:2016
9.
Characterization of gait in late onset Pompe disease
作者:
Paul T. McIntosh
;
paul_mcintosh@outlook.com" class="auth_mail" title="E-mail the corresponding author
;
paul_mcintosh@med.unc.edu" class="auth_mail" title="E-mail the corresponding author
;
Laura E. Case
;
Justin M. Chan
;
Stephanie L. Austin
;
Priya
Kishnani
关键词:
Pompe disease
;
Neuromuscular disease
;
GAITRite
;
Gait analysis
;
Temporospatial parameters
刊名:Molecular Genetics and Metabolism
出版年:2015
10.
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
作者:
Yin-Hsiu Chien
;
Ans van der Ploeg
;
Simon A. Jones
;
Barry Byrne
;
Ashok Vellodi
;
Nancy Leslie
;
Eugen Mengel
;
Suma Shankar
;
Pranoot Tanpaiboon
;
David W. Stockton
;
Julia B. Hennermann
;
Zsuzsanna Devecseri
;
Judy Kempf
;
Joan Keutzer
;
Priya
S.
Kishnani
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
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按检索点细分(61)
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2027年及以后(7)
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