Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia and hyperexcretion of orotic acid. The aim of...

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Váldodahkkit: Anasufiza Habib (Dahkki), Norashareena Mohamed Shakrin (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: SAGE Publishing, 2022-04-01T00:00:00Z.
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3rd Floor Main Library

oažžasuvvan: 3rd Floor Main Library
Hildobáiki: A1234.567
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