Search Results - "Mursă, Adriana"
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Romanian Registry of Hypertrophic Cardiomyopathy - overview of general characteristics and therapeutic choices at a national level
Published in Revue roumaine de médecine interne (1990) (01-09-2018)“…Hypertrophic cardiomyopathy (HCM) is a disease with increased left ventricular (LV) wall thickness not solely explained by abnormal loading conditions, with…”
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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report
Published in BMC medical genetics (29-09-2020)“…Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited…”
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Fabry disease--a primer for cardiologists
Published in Revue roumaine de médecine interne (1990) (01-10-2014)“…Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. It is a systemic disease mostly affecting the kidneys, the…”
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Whole blood transcriptomic profiling in the interpretation of variable phenotype presentation in Fabry disease
Published in Molecular genetics and metabolism (01-02-2023)Get full text
Journal Article