Oculocerebrorenal Syndrome

Known as: Lowe Syndrome, Lowe Oculocerebrorenal Syndrome, Renal-Oculocerebrodystrophy 
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1954-2017
0102019542016

Papers overview

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Highly Cited
2007
Highly Cited
2007
Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retardation… (More)
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Highly Cited
2005
Highly Cited
2005
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe… (More)
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Highly Cited
2005
Highly Cited
2005
Oculocerebrorenal syndrome of Lowe is caused by mutation of OCRL1, a phosphatidylinositol 4,5-bisphosphate 5-phosphatase… (More)
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Highly Cited
2003
Highly Cited
2003
Phosphoinositides (phosphorylated derivatives of phosphatidylinositol, PI) are versatile intracellular signaling lipids whose… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Glomerular sieving coefficients (GSCs) of proteins have been measured extensively in animals but not humans. We have… (More)
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1997
1997
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation… (More)
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1995
1995
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. The predicted amino… (More)
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1995
1995
The oculocerebrorenal (Lowe) syndrome is an X-linked recessive disorder characterized by congenital cataracts, hypotonia… (More)
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1993
1993
Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation… (More)
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Highly Cited
1992
Highly Cited
1992
Lowe's oculocerebrorenal syndrome (OCRL) is a human X-linked developmental disorder of unknown pathogenesis and has a pleiotropic… (More)
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