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OCRL1 mutation in a boy with dent disease, mild mental retardation, but without cataracts

Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and...

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Bibliographic Details
Main Authors: Lozanovski, Vladimir J. (Author) , Ristoska-Bojkovska, N. (Author) , Korneti, P. (Author) , Gucev, Z. (Author) , Tasic, V. (Author)
Format: Article (Journal)
Language:English
Published: August 15, 2011
In: World journal of pediatrics
Year: 2011, Volume: 7, Issue: 3, Pages: 280-283
ISSN:1867-0687
DOI:10.1007/s12519-011-0312-6
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s12519-011-0312-6
Verlag, lizenzpflichtig, Volltext: https://link.springer.com/article/10.1007/s12519-011-0312-6
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Author Notes:Vladimir J. Lozanovski, N. Ristoska-Bojkovska, P. Korneti, Z. Gucev, V. Tasic
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Summary:Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and intermittent microscopic hematuria at the age of 3.
Item Description:Gesehen am 10.11.2022
Physical Description:Online Resource
ISSN:1867-0687
DOI:10.1007/s12519-011-0312-6

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