Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
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
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
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
Clinical Features of Carbamyl Phosphate Synthetase-I Deficiency in an Adult
Ann Neurol 16:90-93, Call,G.,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
Neonatal Polycythemia Causing Multiple Cerebral Infarcts
Arch Neurol 37:109-110, Amit,M.,et al, 1980
Clinical & Biochemical Aspects of Trichopoliodystrophy
Ann Neurol 5:65-71, Grover,W.D.,et al, 1979
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
Cerebrovascular Accidents in Patients with Congenital Heart Disease
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