نتایج جستجو برای: purine metabolism

تعداد نتایج: 233577  

Journal: :Proceedings of the Royal Society of Medicine 1966

Journal: :Metabolites 2023

Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, dietary intake. They are subjected to catabolism, eventually forming uric in humans, while bases and nucleosides may be converted back through the salvage pathways. Inborn errors of pathway catabolism have been described by several researchers usually referred as rare diseases. Since ...

Journal: :Clinical science and molecular medicine 1978
H A Simmonds A Sahota C F Potter J S Cameron

1. We have compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism: purine nucleo­ side phosphoryiase deficiency, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency. 2. The abnormal purines identified in each case were specific for the defect and directly related to it: adenine in adenine phophoribosyltr...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2000

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