Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Clin. Path. Conference
Osteopetrosis, Malignant Juvenile Form, Case Record 37-1982, NEJM 307:735-74382., , 1982
Neuro CPC of MGH
Congenital Toxoplasmosis Involving CNS, NEJM 269:369-3741963., , 1963