Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
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
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998
Defective Glucose Transport Across the Blood-Brain Barrier as Cause of Hypoglycorrhachia, Seizures, and Devel Delay
NEJM 325:703-709, 7311991., DeVivo,D.C.,et al, 1991
Brain Damage by Neonatal Hypoglycaemia
Editorial, Lancet 1:882-8831989., , 1989
Diagnostic Delay in Duchenne's Muscular Dystrophy
JAMA 247:478-480, Crisp,D.E.,et al, 1982