LOWE SENDROMLU BİR OLGUNUN DAVRANIŞ FENOTİPİNE YAKLAŞIM
Cerrahpaşa Medical Journal, 2014 Background. The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements
Mehmet SEVEN +5 more
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The Turkish Journal of Pediatrics, 2013 Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu +2 more
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A new variant of Lowe oculocerebrorenal syndrome.
The Tohoku Journal of Experimental Medicine, 1980 A case is reported of a 5-year-old boy with Lowe syndrome. The patient was unusual in that he had only mild and transient acidosis with no rickets. The corneal opacities in the parents suggest that this disease might be autosomal recessive.
FURUSE, AKIO +6 more
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Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane. [PDF]
J Biol Chem, 2023 Chen H +13 more
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A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient. [PDF]
Ann Dermatol, 2023 Lee JH, Lee J, Suh DH.
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Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature. [PDF]
Am J Case Rep, 2023 Goodman CP +6 more
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Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis. [PDF]
Int J Ophthalmol, 2023 Tan Y +8 more
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Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. [PDF]
J Biol Chem, 2012 Kühbacher A +4 more
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