Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
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
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
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
A Young Woman with Rapid Mental Deterioration and Leukoencephalopathy
Neurol 83:e182-e186, Biotti, D.,et al, 2014
Homocystinuria Due to 5, 10-Methylenetetrahydrofolate Reductase Deficiency Revealed by Stroke in Adult Siblings
Neurol 41:1313-1315, Visy,J.M.,et al, 1991
Hereditary Defect of Cobalamin Metabolism (cblG Mutation) Presenting as a Neurologic Disorder in Adulthood
NEJM 318:1738-1741, 1752-17541988., Carmel,R.,et al, 1988
Heterozygosity for Homocystinuria in Premature Peripheral & Cerebral Occlusive Arterial Disease
NEJM 313:709-715, Boers,G.H.J.,et al, 1985
A Synd of Methylmal Acid, Homocystinuria, Megaloblas. Anemia & Neurol Abnor. in a Vit B-12-def Breast-fed Infant of veget
NEJM 299:317, Higginbottom,M.C., 1978
Newborn Metabolic Screening:Past & Prospect
NEJM 293:824, Levy,H., 1975