Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Homocystinuria Due to 5, 10-Methylenetetrahydrofolate Reductase Deficiency Revealed by Stroke in Adult Siblings
Neurol 41:1313-1315, Visy,J.M.,et al, 1991
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Heterozygosity for Homocystinuria in Premature Peripheral & Cerebral Occlusive Arterial Disease
NEJM 313:709-715, Boers,G.H.J.,et al, 1985