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
Misdiagnosis of Spasm of the Near Reflex
Neurol 26:1018, Griffin,J.F.,et al, 1976
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972