Abstract:
:Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.
journal_name
Acta Med Portjournal_title
Acta medica portuguesaauthors
Diogo L,Proença T,Garcia P,Olveira C,Simmonds Asubject
Has Abstractpub_date
2004-01-01 00:00:00pages
67-9issue
1eissn
0870-399Xissn
1646-0758journal_volume
17pub_type
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