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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Neuropathy of Acute Intermittent Porphyria
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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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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Congenital Cytomegalovirus Infection
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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The Autosomal Recessive Cerebellar Ataxias
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Congenital Inflammatory Myopathy
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Clin. Path. Conference
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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