Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
The Neurotoxicity of Antibacterial Agents
Ann Int Med 101:92-104, Snavely,S.R.,et al, 1984