Renal Phenotype in Lowe Syndrome | Zendy

Detlef Böckenhauer | Zendy; Arend Bökenkamp | Zendy; William van’t Hoff | Zendy; Elena Levtchenko | Zendy; Joana E. Kistvan Holthe | Zendy; Velibor Tasic | Zendy; Michael Ludwig | Zendy

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Renal Phenotype in Lowe Syndrome

Author(s) -

Detlef Böckenhauer,

Arend Bökenkamp,

William van’t Hoff,

Elena Levtchenko,

Joana E. Kistvan Holthe,

Velibor Tasic,

Michael Ludwig

Publication year - 2008

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.00520108

Subject(s) - aminoaciduria , medicine , hypercalciuria , tubulopathy , nephrocalcinosis , fanconi syndrome , glycosuria , endocrinology , renal function , proteinuria , albuminuria , hypocalciuria , hypophosphatemia , kidney disease , kidney , urinary system , hypomagnesemia , urine , materials science , diabetes mellitus , magnesium , metallurgy

Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood.

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