Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology

Gaucher’s disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease’s incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with general...

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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: Singh, Rajveer, Choudhary, Aditya, Kumar, Amith S, Goyal, Manoj Kumar
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2017
Fag:
Reminder of Important Clinical Lesson
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5728210/
https://ncbi.nlm.nih.gov/pubmed/29237663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222304
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