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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… 
National Institutes of Health

Related topics

Related topics

37 relations
Adult Fanconi syndromeAmino Acid Metabolism, Inborn ErrorsAminoaciduriaConstipation

Narrower (1)

Meier Blumberg Imahorn syndrome

Broader (3)

Mental RetardationRenal Tubular Transport, Inborn ErrorsSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Mating patterns and spatial distribution of conspecific neighbours in the Mediterranean shrub Myrtus communis (Myrtaceae)
Mate abundance is one of the most important sources of variation in plant mating systems. We examined within-population… 
2001
2001
MRI and proton spectroscopy in Lowe syndrome.
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous… 
2000
2000
Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.
Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous… 
1998
1998
First report of prenatal biochemical diagnosis of Lowe syndrome
The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X‐linked disorder with a severe phenotype characterized by congenital… 
1997
1997
Dental findings in an adult with Lowe's syndrome.
This paper describes the dental findings and care of a Chinese adult affected with oculo-cerebro-renal syndrome--Lowe's syndrome… 
1992
1992
A threshold level of coupled G-proteins is required to transduce neutrophil responses.
Chemoattractant-induced activation of human polymorphonuclear leukocytes involves receptor coupling to guanine nucleotide binding… 
Review
1990
Review
1990
Cataract and metabolic disease
SummaryIn addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g… 
1988
1988
Effects of transport temperature and medium on recovery of Bordetella pertussis from nasopharyngeal swabs
We compared relative recoveries of Bordetella pertussis from simulated nasopharyngeal (NP) specimens incubated in three separate… 
1967
1967
Oculocerebrorenal syndrome in a female child.
LOWE ET AL 1 have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and… 
1963
1963
Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters
We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features… 
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