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, admitt...

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Main Authors: Agnieszka Jędzura (Author), Monika Dębowska (Author), Piotr Adamczyk (Author)
Format: Book
Published: SpringerOpen, 2024-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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