[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].

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 Port

journal_title

Acta medica portuguesa

authors

Diogo L,Proença T,Garcia P,Olveira C,Simmonds A

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

67-9

issue

1

eissn

0870-399X

issn

1646-0758

journal_volume

17

pub_type

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