Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Angiokeratoma Corporis Diffusum
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
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Molybdenum Cofactor Deficiency
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Cognitive Delay in a 7-year-old Girl
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Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
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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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Neonatal Epileptic Encephalopathy
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Coma in a Young Anorexic Woman
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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Maternal Phenylketonuria:Magnetic Resonance Imaging of the Brain in Offspring
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
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Conditions That Mimic Stroke in the Emergency Department
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Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
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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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Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
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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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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984
Lafora Disease:Liver Histopathology in Presymptomatic Children
Ann Neurol 14:86-89, Baumann,R.J.,et al, 1983
Inborn Errors of Metabolism
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Brainstem Auditory Evoked Response in the Diagnosis of Pediatric Neurologic Diseases
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
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Glycine Encephalopathy
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Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
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Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
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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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Corneal Opacification in Infancy
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New Kind of PKU
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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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Metabolic Defects Associated with Mental Retardation
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