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County-Level Structural Racism Indices and Racial Disparities in Lung Cancer Care.
Gaddy JJ +9 more
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Use of Complementary and Alternative Medicine in the Management of Breast Cancer.
Ayoade OF +5 more
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Loneliness and mental wellbeing in people with inherited macular disease
Crossland MD +5 more
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Restricted diffusion in Canavan disease
Child's Nervous System, 2007Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase. Proton MR spectroscopy finding of elevated N-acetyl-L: -aspartate is considered diagnostic of Canavan disease.We report a case of Canavan disease, which showed restricted diffusion in diffusion-weighted imaging and discuss the cause of it.
S G Srikanth +2 more
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A case of Canavan disease with microcephaly
Brain and Development, 2016Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly.We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly.MRI brain revealed diffuse ...
Vykuntaraju K Gowda +2 more
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Molecular basis of Canavan disease
European Journal of Paediatric Neurology, 1998Canavan disease is a neurodegenerative disorder characterized by spongy degeneration of the white matter of the brain. The brain pathology of the disease was described by Canavan in 1931 in a child thought to have Schilder’s disease.’ In 1949, van Bogaert and Bertrand in their report of three children of Jewish extraction with Canavan disease ...
Reuben Matalon +1 more
exaly +3 more sources
Severe retinal degeneration in a patient with Canavan disease
Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase.
Matthew D Benson +2 more
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Atypical MRI Findings in Canavan Disease: A Patient with a Mild Course
Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas ...
Cengiz Yalcinkaya +2 more
exaly +2 more sources
Prenatal diagnosis of canavan disease
Journal of Inherited Metabolic Disease, 1992Spongy degeneration of the brain, Canavan disease (CD; McKusick 271900), is an autosomal recessive disorder prevalent among Ashkenazi Jews. The disease is a leukodystrophy manifested by macrocephaly, mental retardation and early death (Canavan 1931; van Bogaert and Bertrand 1967).
R, Matalon +3 more
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