Results 91 to 100 of about 6,563 (194)
Bilateral Internal Carotid Artery Occlusion due to Homocystinuria: Case Report
, 2011 The damage mechanism of homocystinuria that occurs due to cystathionine beta-synthase deficiency is not known. However, it is proposed that transmethylation disorders and NMDA-mediated excitotoxicity cause endothelial damage, thereby leading to vascular ...
Demiray, DERYA +3 more
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Genes, children and paediatricians: Homocystinuria
, 2012 Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved ...
Oliveira, T., Martins, E., Bandeira, A.
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Homocystinuria: Reduced folate levels during pyridoxine treatment
, 1973 Homocystinuria: reduced folate levels during pyridoxine treatment. Nine patients with homocystinuria due to cystathionine synthase deficiency were treated with pyridoxine: 6 responded biochemically and 5 of these showed marked clinical improvement.
Brian Turner, Bridget Wilcken
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Isolated aortic root dilation in homocystinuria
, 2018 BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Pitcher, A +8 more
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A Case of Late-Diagnosed Homocystinuria Presenting with Epileptic Seizures
, 2007 Homocystinuria is an inherited disorder which affects multiple organ systems due to enzyme deficiencies involved in methionine metabolism. This study investigates a 9-year-old boy who had initially been followed up with partial epilepsy diagnosis for 2 ...
Uran, Nedret, Unalp, Aycan, ARSLAN, NUR
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Infantile Homocystinuric Urolithiasis With Staghorn Calculus: A Case Report of Nephron-Sparing Surgical Salvage in an Intraparenchymal Renal Pelvis. [PDF]
CureusWinnifred JD +3 more
europepmc +1 more source
Bilateral lens subluxation in a patient with homocystinuria: a case report. [PDF]
Am J Ophthalmol Case RepZhan Z +5 more
europepmc +1 more source
Homocystinuria is an uncommon metabolic disorder characterized by increased homocysteine concentrations. The condition may arise from mutations in the cystathionine beta-synthase (CBS) gene (classic) or in other genes associated with the cobalamin and ...
Davoud Amirkashani +8 more
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Psychosis in the aftermath of stroke: Pyridoxine-responsive homocystinuria in an adolescent. [PDF]
Indian J PsychiatryKannappan R +3 more
europepmc +1 more source