Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

CiteULike is a free service for managing and discovering scholarly references - click here to get started.

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Tsao, C. Y.
Right arrow Articles by Wright, F. S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tsao, C. Y.
Right arrow Articles by Wright, F. S.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

A Hypotonic Infant With Complete Deficiencies of Acid Maltase and Debrancher Enzyme

Chang Y. Tsao, MD

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Carl P. Boesel, MD

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Francis S. Wright, MD

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Infantile acid maltase deficiency is an autosomal recessive disease that invariably leads to death in the first 2 years of life. Debrancher deficiency, also an autosomal recessive disease, however, carries a slowly progressive course. We report a hypotonic infant with a typical clinical course of infantile acid maltase deficiency in whom biochemical investigation revealed complete deficiencies of both acid maltase and debrancher enzyme. (J Child Neurol 1994;9:90-91).

Journal of Child Neurology, Vol. 9, No. 1, 90-91 (1994)
DOI: 10.1177/088307389400900122
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 J Child NeurolHome page
C.-Y. Tsao and J. R. Mendell
Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level
J Child Neurol, April 1, 2002; 17(4): 304 - 306.
[Abstract] [PDF]