Neonatal Seizures
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Molybdenum Cofactor Deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003
Coma in a Young Anorexic Woman
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Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
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The Reversible Dementias:Do They Reverse?
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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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Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Inborn Errors of Metabolism
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Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
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Newborn Metabolic Screening:Past & Prospect
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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Prenatal Genetic Diagnosis
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Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
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Inherited Aminoacidopathies Demonstrating Vitamin Dependency
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Angiokeratoma Corporis Diffusum
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