Article

Angelman syndrome in Poland: current diagnosis and therapy status – the caregiver perspective – a questionnaire study

2024-07-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. To date, no study has been conducted in the Polish population to verify th...

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Literature Corpus work: d492847f-5495-5b16-b9a8-bcbe30bf063c
DOI: 10.21203/rs.3.rs-4390753/v1

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