Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.
J Inherit Metab Dis
; 20(2): 179-85, 1997 Jun.
Article
de En
| MEDLINE
| ID: mdl-9211190
ABSTRACT
Adenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequenced and the ADA three-dimensional structure solved. The relationship between genotype and phenotype is being analysed, and ADA deficiency has become a focus for novel approaches to enzyme replacement and gene therapy.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Adenosine deaminase
Limites:
Animals
/
Humans
Langue:
En
Journal:
J Inherit Metab Dis
Année:
1997
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique