Pyruvate Dehydrogenase Deficiency (PDCD)
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Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Coma in a Young Anorexic Woman
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Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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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
Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,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
Prenatal Genetic Diagnosis
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Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
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Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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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
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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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
Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977
Newborn Metabolic Screening:Past & Prospect
NEJM 293:824, Levy,H., 1975
New Kind of PKU
Pediatrics Consultant Sept 1971, pp 68-70., Johnson,C., 1971
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Metabolic Defects Associated with Mental Retardation
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Angiokeratoma Corporis Diffusum
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