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J Inherit Metab Dis. 2006 Dec;29(6):763. Epub 2006 Oct 14.

Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report.

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1
Department of Paediatric Neurology, University Hospital La Paz, Paseo Castellana, 261, 28046, Madrid, Spain. ipascualp.hulp@salud.madrid.org

Abstract

A patient with atypical infantile Pompe disease suffered acute respiratory insufficiency at the age of 8 years which resulted in complete immobilization and dependence on assisted ventilation. Shortly after initiation of enzyme replacement therapy, she regained her mobility and, after 20 months of treatment, she now leads an almost normal life with limited restrictions.

PMID:
17041744
DOI:
10.1007/s10545-006-0427-4
[Indexed for MEDLINE]
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