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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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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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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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The Autosomal Recessive Cerebellar Ataxias
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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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
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Dipsticks and Convulsions
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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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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Alternating Hemiplegia of Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Glycine Encephalopathy
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