Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Newborn Metabolic Screening:Past & Prospect
NEJM 293:824, Levy,H., 1975
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013
Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003
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
Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989
The Reversible Dementias:Do They Reverse?
Ann Int Med 109:476-486, Clarfield,A.M., 1988
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
Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986
Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977
Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
New Kind of PKU
Pediatrics Consultant Sept 1971, pp 68-70., Johnson,C., 1971
Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965
Metabolic Defects Associated with Mental Retardation
Am J Dis Child 104:401, Garell,D., 1962
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962