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Congenital Cytomegalovirus Infection
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Aicardi-Gouti�res Syndrome
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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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
UptoDate Dec 2017, Oksana Suchowersky, 2017
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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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Cognitive Delay in a 7-year-old Girl
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
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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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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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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A Teenager with Shortness of Breath and Difficulty Walking
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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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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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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The Autosomal Recessive Cerebellar Ataxias
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Unexplained Seizures in an Infant
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Epilepsy in Children with Infantile Thiamine Deficiency
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The Floppy Infant: Evaluation of Hypotonia
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Neurological Findings in Aminoacylase 1 Deficiency
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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A Floppy Child with Failure to Thrive
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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Clinicopath Conf
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995