Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome

Abstract Background Generally, it is not well known that Lowe’s syndrome may coexist with hyperammonemia and hipocarnitynemia. The importance of hyperammonemia in the diagnosis of kidney diseases is not completely understood. Case presentation We present the history of a 13-year-old boy, admitted to...

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Bibliographic Details
Published in:Egyptian Pediatric Association Gazette
Main Authors: Agnieszka Jędzura, Monika Dębowska, Piotr Adamczyk
Format: Article
Language:English
Published: SpringerOpen 2024-08-01
Subjects:
Online Access:https://doi.org/10.1186/s43054-024-00295-x