Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Neurological Findings in Aminoacylase 1 Deficiency
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Neurologic and Cognitive Deficits in Children with Cystinosis
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Coffin-Siris Syndrome, Neuropathologic Findings
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Glycine Encephalopathy
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