Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978
Possible Biochemical Basis of Memory Disorder in Alzheimer Disease
Ann Neurol 3:471, Smith,C.M.,et al, 1978
Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978
Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978
Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Subacute Necrotizing Encephalopathy in Late Adolescence
Arch Neurol 18:478, Hardman,J.M.,et al, 1968