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注意:仅列出部分参考文献,下载原文获取全部文献信息。Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
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Olga Azevedo et al.
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Alberto Ortiz et al.
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L. Lavalle et al.
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Maarten Arends et al.
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Han-Jui Lee et al.
BMC NEUROLOGY (2017)
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AMERICAN JOURNAL OF NEURORADIOLOGY (2016)
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Michela Ranieri et al.
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
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STROKE (2015)
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
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HEART (2011)
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Differences in Fabry Cardiomyopathy Between Female and Male Patients Consequences for Diagnostic Assessment
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Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
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JOURNAL OF HUMAN GENETICS (2010)
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ORPHANET JOURNAL OF RARE DISEASES (2010)
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STROKE (2010)
Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease
Jung-Young Park et al.
EXPERIMENTAL AND MOLECULAR MEDICINE (2009)
Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events Natural History Data From the Fabry Registry
Katherine Sims et al.
STROKE (2009)
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Alessandro P. Burlina et al.
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S. Buechner et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
William R. Wilcox et al.
MOLECULAR GENETICS AND METABOLISM (2008)
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Ales Linhart et al.
EUROPEAN HEART JOURNAL (2007)
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Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)