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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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Bibliographische Detailangaben
Hauptverfasser: Lozanovski, Vladimir J. (VerfasserIn) , Ristoska-Bojkovska, N. (VerfasserIn) , Korneti, P. (VerfasserIn) , Gucev, Z. (VerfasserIn) , Tasic, V. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: August 15, 2011
In: World journal of pediatrics
Year: 2011, Jahrgang: 7, Heft: 3, Pages: 280-283
ISSN:1867-0687
DOI:10.1007/s12519-011-0312-6
Online-Zugang: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
Volltext
Verfasserangaben:Vladimir J. Lozanovski, N. Ristoska-Bojkovska, P. Korneti, Z. Gucev, V. Tasic
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 10.11.2022
Beschreibung:Online Resource
ISSN:1867-0687
DOI:10.1007/s12519-011-0312-6

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