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A Teenager with Shortness of Breath and Difficulty Walking
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Alternating Hemiplegia of Childhood
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Spinal Muscular Atrophy
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Sydenham Chorea
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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, Galactosemia
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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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Human Botulism Immune Globulin for the Treatment of Infant Botulism
NEJM 354:462-471, Arnon,S.S.,et al, 2006
Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Clin. Path. Conference
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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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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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
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018
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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A Neonate with Micrognathia and Hypotonia
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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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, Infantile Niemann-Pick 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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Unexplained Seizures in an Infant
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Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
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Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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