Search Results - "Devine, Kerry"
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A Case Series of Disproportionate Elevations of Cardiac Troponin and Macrotroponin in Fabry Disease
Published in Journal of inborn errors of metabolism and screening (2024)“…Abstract Fabry disease is a rare X-linked lysosomal storage disorder that causes progressive cellular accumulation of glycosphingolipids, leading to various…”
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Left Atrial Enlargement and Reduced Atrial Compliance Occurs Early in Fabry Cardiomyopathy
Published in Journal of the American Society of Echocardiography (01-12-2013)“…Background Fabry disease is associated with left ventricular hypertrophy (LVH) and myocardial fibrosis. The aim of this study was to evaluate left atrial (LA)…”
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Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease
Published in Journal of cardiovascular development and disease (03-01-2022)“…Fabry disease (FD) is an X-linked disorder with α-galactosidase A deficiency. Males (>30 years) and females (>40 years) often present with cardiac…”
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Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase
Published in JIMD Reports - Case and Research Reports, 2011/1 (01-01-2011)“…Mucopolysaccharidosis type II (MPS II – Hunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic…”
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Book Chapter Journal Article -
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A case series of falsely elevated serum troponin I in Fabry disease secondary to macrotroponin
Published in Pathology (01-03-2022)Get full text
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Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease
Published in Journal of the American Society of Echocardiography (01-04-2021)“…Cardiac involvement in Anderson-Fabry disease (AFD) is associated with increased left ventricular (LV) wall thickness. The aim of this study was to evaluate if…”
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Journal Article