A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference14 articles.
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2. The natural history of homocystinuria due to cystathionine beta-synthase deficiency;Mudd;Am J Hum Genet,1985
3. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically;Yap;Arterioscler Thromb Vasc Biol,2001
4. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders;Testai;Arch Neurol,2010
5. Molecular neonatal screening for homocystinuria in the Qatari population;Zschocke;Hum Mutat,2009
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1. The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital;Thrombosis Journal;2024-06-17
2. Activation of arginase II by asymmetric dimethylarginine and homocysteine in hypertensive rats induced by hypoxia: a new model of nitric oxide synthesis regulation in hypertensive processes?;Hypertension Research;2020-11-04
3. Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic;Expert Review of Proteomics;2020-10-02
4. Cystathionine β-synthase deficiency: different changes in proteomes of thrombosis-resistant Cbs−/− mice and thrombosis-prone CBS−/− humans;Scientific Reports;2020-07-01
5. The Spectrum of Mutations of Homocystinuria in the MENA Region;Genes;2020-03-20
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