Erschienen in:
01.06.2014 | Letter to the Editor
Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation
verfasst von:
S. Peric, K. Fumic, K. Bilic, A. Reuser, V. Rakocevic Stojanovic
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 2/2014
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Excerpt
Pompe disease is an autosomal recessive disorder caused by deficient activity of acid alpha-glucosidase [
1]. Infantile Pompe disease presents in the first months of life and most untreated infants die within first year. Late-onset Pompe disease leads to severe proximal and respiratory muscle weakness, while residual enzyme activity prevents cardiomyopathy. …