Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
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
Neurologic Sequelae of Cardiac Surgery in Children
Am J Dis Child 141:309-312, Ferry,P.C., 1987
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
Diphenylhydantoin & Selected Congenital Malformations
NEJM 289:1049, 1973; 289:1089973., Monson,R.,et al, 1973
Congenital Anomalies & Herpesvirus Infection
Am J Dis Child 126:364, Montogomery,J.R.,et al, 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Rubella, Clinical Manifestations & Management
Am J Dis Child 118:18-29, Cooper,L.Z.,et al, 1969
Neuro CPC of MGH
Myopathy, Severe, Generalized, Chronic, NEJM 258:388-3938., , 1958
Cerebrovascular Accidents in Patients with Congenital Heart Disease
Arch Neurol & Psychiat 77:483957., Tyler,H.R.,et al, 1957