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Filter Applied: enzyme,defect (Click to remove)

Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978

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

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

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

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



Showing articles 0 to 14 of 14