Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973
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
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
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008
Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003
Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962