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purine metabolism disorder

Known as: Purine Disorder 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2022
2022
Purine and Pyrimidine Disorders
Genetic defects of purine and pyrimidine metabolism represent a group of relatively new disorders. Xanthinuria, the first genetic… 
2016
2016
Hereditary Xanthinuria with Recurrent Urolithiasis Occurring in Infancy
Introduction: Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children. Case… 
2009
2009
[Peculiarities of uric acid balance disorders in patients with type 2 diabetes and metabolic syndrome].
Hyperuricemia (HU) is considered to be a sign of metabolic syndrome as a consequence of purine metabolism disorder. To… 
2007
2007
[Recurrent urinary lithiasis revealing hereditary xanthinuria].
INTRODUCTION Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children… 
2006
2006
Familial Juvenile Hyperuricaemic Nephropathy is not Such a Rare Genetic Metabolic Purine Disease in Britain
Renal disease is rare today in classic adult gout, and gout is rare in renal disease—especially in the young. Here we summarise… 
Review
2006
Review
2006
External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders.
INTRODUCTION This paper shows the importance and value of external proficiency testing programmes in monitoring and improving a… 
2001
2001
[Urine fibrinolytic activity as an indicator of kidney damage in uric acid metabolic imbalance].
AIM To determine functional fibrinolytic activity of the urine in patients with different forms of purine metabolism disorder… 
1975
1975
[Correlation between purine metabolism disorder and hypertension].
1973
1973
[Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].
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