Document Detail

Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency.
MedLine Citation:
PMID:  23290485     Owner:  NLM     Status:  Publisher    
We report the case of a female patient who developed Pompe's disease when she was 19. She received enzyme replacement therapy from the age of 35, and after three years of treatment the improvement in her clinical condition was such that she was able to consider having a baby. It was the patient's wishes to continue with her treatment throughout the entirety of her pregnancy. There were no complications, but there was a clear deterioration in motor and respiratory functions. She delivered at term by Caesarean section, and the child was healthy. Six months later, we noted an improvement of her motor and respiratory functions. The child was developing normally.
Fabien Zagnoli; Amelie Leblanc; Christian Blanchard
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-3
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  -     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier B.V. All rights reserved.
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