Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
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
Subacute Progressive Sensorimotor Symptoms
BMJ 365:doi:10.1136/bmj.l1923, Francis, A.,et al, 2019
A Young Woman with Rapid Mental Deterioration and Leukoencephalopathy
Neurol 83:e182-e186, Biotti, D.,et al, 2014
Cerebral Venous Thrombosis: A Descriptive Multicenter Study of Patients in Pakistan and Middle East
Stroke 39:2707-2711, Khealani,B.,et al, 2008
Lowering Homocysteine in Patients with Ischemic Stroke to Prevent Recurrent Stroke, Myocardial Infarction, and Death
JAMA 291:565-575,621, Toole,J.F.,et al, 2004
Plasma Homocysteine as a Risk Factor for Dementia and Alzheimer's Disease
NEJM 346:476-483, 466, Seshadri,S.,et al, 2002
Homocysteine, Silent Brain Infarcts, and White Matter Lesions: The Rotterdam Scan Study
Ann Neurol 51:285-289,279, Vermeer,S.E.,et al, 2002