Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
Pediatrycs 87:421-430, Keeney,S.E.,et al, 1991
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Pontine Tegmental Cap Dysplasia in a Neonate
Neuol 91:e2100-e2101, Bilgin, N.,et al, 2018
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Congenital Ocular Motor Apraxia
Arch Neurol 36:29-31, Orrison,W.W.,et al, 1979