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Haematological studies in a case of oculocerebrorenal syndrome.
Helvetica paediatrica acta, 1977A four-year-old boy affected by oculocerebrorenal syndrome had moderate anaemia. The haematological study indicated hyperhaemolysis probably due to an extra-erythrocytic factor. It is suggested that this factor might be related to the metabolic disturbance of the disease, particularly the hyperchloraemic acidosis.
L, Pavone +4 more
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Pathological Features of the Eye in the Oculocerebrorenal (Lowe) Syndrome
Journal of Pediatric Ophthalmology & Strabismus, 1981We studied the eyes of a 13-year-old boy with Lowe syndrome and updated the microscopic ocular findings. These are interpreted as a mesoectodermal dysgenesis involving the anterior and posterior segment. The eye exhibits a greater variety of morphologic change than any other organ in Lowe syndrome.
J, Ginsberg, K E, Bove, M H, Fogelson
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Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe
American Journal of Medical Genetics, 1993AbstractBackground: The oculocerebrorenal syndrome of Lowe (OCRL) is an X‐linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Significant behavioral difficulties have been reported, but no formal study of intelligence or behavior has been described.
L, Kenworthy, T, Park, L R, Charnas
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Renal function and morphology in a girl with oculocerebrorenal syndrome
The Journal of Pediatrics, 1970T H ~ O C I U L O C E R E B R O R E N A L synd rome was first described by Lowe and associates in 1952.1 This syndrome is character ized by menta I re ta rda t ion , hypotonia , ocu la r abnormal i t ies , metabol ic acidosis, general ized aminoac idur ia , and in most cases, rickets. I n L o w e ' s most recent review, the syndrome is considered to be
I, Sagel, R O, Ores, A M, Yuceoglu
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Oculocerebrorenal syndrome phenotype in four Iraqi children
Journal of Pediatric Neurology, 2015The oculocerebrorenal syndrome (OCRS) is a rare hereditary disorder characterized by ocular and cerebral defects, hypotonia, hyporeflexia and renal dysfunction. The aim of this study is to report the phenotype OCRS in four Iraqi children. From 1994 to 2005, four patients (two boys and two girls) with OCRS phenotype were observed at Al-Kadhimiyia ...
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Different Seizure Types and Skin Lesions in Oculocerebrorenal Syndrome of Lowe
Journal of Child Neurology, 2007Oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder localized to Xq24-26.1. The phenotypic features of this disorder are Fanconi-type renal failure, mental retardation, and various eye abnormalities. Seizures may accompany the disease, and the skin-related findings are poorly defined.
Ismailogullari, Sevda +4 more
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Oculocerebrorenal Syndrome in a Female Child
Archives of Pediatrics & Adolescent Medicine, 1967LOWE ET AL 1 have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Since their original report, approximately 50 cases have been published. 2 The disease is called the oculocerebrorenal syndrome or Lowe's syndrome.
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Lowe's oculocerebrorenal syndrome ‐ variation in lens changes in the carrier state
Acta Ophthalmologica, 1991Abstract The lens changes in DNA based analysis compatible carriers of the gene of Lowe's syndrome in one family are discribed. The lens changes consist of a large amount of characteristic punctate cortical opacities. In two of the three carriers, formed lens opacities were found, appearing like congenital riders. In one lens containing congenital‐like
P, Fagerholm, G, Annerén, C, Wadelius
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The Oculocerebrorenal Syndrome of Lowe
Advances in Pediatrics, 1991L R, Charnas, W A, Gahl
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The Oculocerebrorenal Syndrome of Lowe
International Ophthalmology Clinics, 1993C W, Lavin, C A, McKeown
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