Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Teenager with Shortness of Breath and Difficulty Walking
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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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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Cognitive Delay in a 7-year-old Girl
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Unexplained Seizures in an Infant
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The Floppy Infant: Evaluation of Hypotonia
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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
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Dipsticks and Convulsions
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Muscle Carnitine Deficiency in Patients Using Valproic Acid
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Fucosidosis Revisited:A Review of 77 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Clin. Path. Conference
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Glycine Encephalopathy
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