Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
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چکیده
1. George F, Brisson C, Poncelet P, et al. Rapid isolation of human endothelial cells from whole blood using S-Endo1 monoclonal antibody coupled with immunomagnetic beads: demonstration of endothelial injury after angioplasty. Thromb Haemost. 1992;67:147-153. 2. Rambaud JC, Galian A, Touchard G, et al. Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities: a new family syndrome. Gastroenterology. 1986;90:930-938. 3. van Effenterre G, Haut J, Brezin A, et al. Retinal and choroidal ischemic syndrome, digestive tract and renal small vessel hyalinosis, intracerebral calcifications and phenotypic abnormalities: a new family syndrome. Graefes Arch Clin Exp Ophthalmol. 1989;227:315-322. 4. Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993; 3:256-259. 5. Ophoff RA, DeYoung J, Service SK, et al. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet. 2001;69:447-453. Maculopathy and Retinal Degeneration in Cobalamin C Methylmalonic Aciduria and Homocystinuria
منابع مشابه
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull’s Eye Maculopathy
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متن کاملEarly onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC...
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BACKGROUND Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood and urine. Most patients present...
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In their prospective neurodevelopmental evaluation of children with combined methylmalonic acidemia and homocystinuria, cobalamin C type (MMAHCC), Weisfeld-Adams et al. [1] obtained a magnetic resonance imaging and spectroscopy (MRI/MRS) of the brain. While the authors report a range of MRI brain abnormalities similar to previously published series, MR spectra were found to be normal in all sub...
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عنوان ژورنال:
- Archives of ophthalmology
دوره 123 8 شماره
صفحات -
تاریخ انتشار 2005