Document Detail


Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
MedLine Citation:
PMID:  7468596     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and proved to have Sandhoff disease. In two other cases, parents were tested and found to be Sandhoff carriers. These results indicate that Sandhoff disease is relatively prevalent in Lebanon and that it may represent the more common form of infantile GM2 gangliosidosis in this country.
Authors:
V M Der Kaloustian; M J Khoury; R Hallal; Z H Idriss; M E Deeb; N W Wakid; F S Haddad
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  33     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1981 Jan 
Date Detail:
Created Date:  1981-04-21     Completed Date:  1981-04-21     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  85-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Diagnosis, Differential
Female
Gene Frequency
Hexosaminidases / blood
Humans
Infant
Lebanon
Male
Pedigree
Retrospective Studies
Sandhoff Disease / blood,  diagnosis*,  genetics
Tay-Sachs Disease / blood,  diagnosis*
Chemical
Reg. No./Substance:
EC 3.2.1.-/Hexosaminidases
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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