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Helena Poupetova

First Faculty of Medicine, Charles University in Prague

9

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217

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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

2019 Journal of Neurology
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Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

2018 Cardiovascular Pathology
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

2016 Molecular Genetics and Metabolism
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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

2014 Orphanet Journal of Rare Diseases
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FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS

2006 Acta Paediatrica
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A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

2001 Human Molecular Genetics
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Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

1999 Molecular Genetics and Metabolism
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Citations (7)