Chest ACCP Education Calendar
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Guest Access | Sign In via User Name/Password
This Article
Right arrow Full Text (PDF) Free
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Article Archive
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Lightman, N.
Right arrow Articles by Schooley, R.
Right arrow Search for Related Content
PubMed
Right arrow Articles by Lightman, N.
Right arrow Articles by Schooley, R.

Chest, Vol 72, 250-252, Copyright © 1977 by American College of Chest Physicians

ARTICLES

Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty

NI Lightman and RT Schooley

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.


This article has been cited by other articles:


Home page
 NeurologyHome page
P. Laforet, M. Nicolino, B. Eymard, J. P. Puech, C. Caillaud, L. Poenaru, and M. Fardeau
Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation
Neurology, October 24, 2000; 55(8): 1122 - 1128.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1977 by the American College of Chest Physicians.