Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Cognitive Delay in a 7-year-old Girl
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Epilepsy in Children with Infantile Thiamine Deficiency
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Aicardi-Gouti�res Syndrome
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A Floppy Child with Failure to Thrive
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Fucosidosis Revisited:A Review of 77 Patients
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Central Core Disease, Clinical Features in 13 Patients
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
Ann Neurol 8:317-324, Steiman,G.S.,et al, 1980
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Lumbosacral Radiculomyelitis Assoc with Pandemic Acute Hemorrhagic Conjunctivitis
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