Search Results - "Berankova, Kamila"
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Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
Published in BMC pediatrics (29-01-2020)“…Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a…”
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Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease
Published in Frontiers in immunology (16-04-2019)“…Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe…”
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GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency
Published in Archives of disease in childhood (01-06-2019)“…Mitochondrial disorders (MD) in childhood represent a heterogeneous group of disease. The most common cause of MD is respiratory chain complex I (CI)…”
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Sideroblastic anemia associated with multisystem mitochondrial disorders
Published in Pediatric blood & cancer (01-04-2019)“…Background Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective…”
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Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
Published in Prague medical report (01-01-2017)“…Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently,…”
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Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease
Published in Frontiers in immunology (01-01-2019)Get full text
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