New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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The Tuberous Sclerosis Complex
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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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
Hemoglobin H Disease & Mental Retardation
NEJM 305:607-612, Weatherall,D.J.,et al, 1981
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963