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Disorder of cholesterol metabolism
Disorder of purine metabolism
Disorders of purine and pyrimidine metabolism
Inborn error of metabolism
Inborn metabolic disorder
Metabolic disorder
Other disorders of purine and pyrimidine metabolism

Traduction de «Disorder purine metabolism » (Anglais → Français) :

Disorder of purine metabolism

trouble du métabolisme de la purine


An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurol

hyperactivité de la phosphoribosylpyrophosphate synthétase


Renal tubulo-interstitial disorders in metabolic diseases

Maladie rénale tubulo-interstitielle au cours de maladies métaboliques


Other disorders of purine and pyrimidine metabolism

Autres anomalies du métabolisme de la purine et de la pyrimidine


Disorders of purine and pyrimidine metabolism

Anomalies du métabolisme de la purine et de la pyrimidine


inborn error of metabolism | inborn metabolic disorder

maladie enzymatique


disorder of cholesterol metabolism

trouble du métabolisme du cholestérol




Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic

encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA






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'Disorder purine metabolism' ->

Date index: 2023-02-28
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