Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987
A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Conditions That Mimic Stroke in the Emergency Department
Arch Neurol 52:1119-1122, Libman,R.B.,et al, 1995
Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
Neurol 39:847-848, Kolodny,E.H., 1989
The Reversible Dementias:Do They Reverse?
Ann Int Med 109:476-486, Clarfield,A.M., 1988
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977
Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970